Official Symbol: BRCA1provided by HGNC
Official Full Name: breast cancer 1, early onsetprovided by HGNC
Primary Source: HGNC:1100
See related: Ensembl:ENSG00000012048; HPRD:00218; MIM:113705
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IRIS; PSCP; BRCAI; BRCC1; RNF53; BROVCA1; BRCA1
Summary: This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq]

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence details Try our new Sequence Viewer

[Top][Help]Genomic context

chromosome: 17; Location: 17q21See BRCA1 in MapViewer

[Top][Help]Bibliography

GeneRIFs: Gene References Into Function What's a GeneRIF?

	1.	molecular complexity of BRCA1 breast tumours, which are found to display similarities to sporadic tumours, and suggests possible prognostic implications.
	2.	The *BRCA1 missense mutation is a founder mutation that can be detected in geographically related populations.
	3.	There was no evidence that TP53 Arg72Pro or MDM2 309T>G, either singly or in combination, influence breast cancer risk in BRCA1 or BRCA2 mutation carriers.
	4.	BRCA1 methylation correlated with age at diagnosis (P = .015) and 5-years disease free survival (P = .016) while hMLH1 methylation was more frequent in larger tumors (P = .002) and in presence of distant metastasis (P = .004).
	5.	Heterozygosity and homozygosity of any of the examined nine BRCA1 and BRCA2 missense polymorphisms cannot explain the increased risk of breast and/or ovarian cancer observed in families with hereditary breast and/or ovarian cancer.
	6.	BRCA1 cancers with positive HIF-1alpha or cytoplasmic FIH had a significantly shorter relapse-free survival.
	7.	BRCA1 interaction of Nlp might be required for the successful mitotic progression, and abnormalities of Nlp lead to genomic instability.
	8.	BRCA mutation carriers, as well as women with a significant family history of breast and ovarian cancer are more vulnerable to exogenous hormones in oral contraceptives.
	9.	The proportion of Korean ovarian cancer patients with a strong family history was significant, and the prevalence of BRCA1 and BRCA2 mutations in such patients was high.
	10.	upregulation of BRCA1 has a role in senescence-like growth inhibition of U-2 OS cells
	11.	BRCA1 and ZNF350 may jointly contribute to individuals' susceptibility of breast cancer in Chinese women.
	12.	TGFB1 L10P genotype does not modify the risk of breast cancer in BRCA1 or BRCA2 mutation carriers
	13.	the BRCA1 nucleotide 234 T > G is a common Greenlandic Inuit founder mutation
	14.	BRCA1 mutation is associated with male breast cancer.
	15.	Data show that variants in genes that interact biologically with BRCA1 and/or BRCA2 may be associated with modified ovarian cancer risk in women who carry BRCA1/2 mutations.
	16.	Data demonstrate a preference for BRCA1 binding to supercoiled DNA, and show that the central region may contain at least two efficient DNA binding domains with strong affinity for sc DNA.
	17.	Since laryngeal carcinomas in men with BRCA-1 mutations show clinical features characteristic of BRCA-1 dependent tumors, it is reasonable to consider treatment modifications appropriate for this sub-group of tumors
	18.	BRCA1 promoter methylation is associated with sporadic breast cancer.
	19.	our findings suggest no difference in the occurrence of miscarriage between BRCA1 carriers and non-carriers when parental consanguinity was taken into consideration
	20.	we determined the methylation statuso f the promoter in putative modifier genes: BRCA1, BRCA2, ATM, ATR and P53 in Jewish BRCA1/BRCA2 mutation carriers with or without breast cancer. hypermethylation was detected only in the BRCA1 promotor
	21.	An aberrant luminal progenitor population is a target for transformation in BRCA1-associated basal tumors .
	22.	The prevalence of germline mutations in the BRCA1 and BRCA2 genes found was lower than reported on high-risk Brazilian populations.
	23.	Data provide evidence that in breast cancer cells BRCA1 is involved in XIST regulation on the active X chromosome.
	24.	BRCA1 is an upstream regulator of BRCA2 in the DNA-damage response, and PALB2 is the linker between BRCA1 and BRCA2 in breast and ovarian cancer.
	25.	Our data suggest that early stage BRCA1-associated breast cancers are more frequently ERalpha and PR positive and low grade than advanced stages.
	26.	Large genomic rearrangements in BRCA1 and BRCA2 are common in East Denmark
	27.	BRCA1 promoter methylation is an important factor to consider in predicting breast cancer survival.
	28.	BRCA1/1a/1b fine tunes the dynamic complex interplay between SUMO-dependent/independent activities of Ubc9 on E2-induced ERalpha activation/repression and degradation in breast cancer cells
	29.	The BRCA1 3' UTR:5711+421T/T_5711+1286T/T genotype is a possible breast and ovarian cancer risk factor.
	30.	analysis of the 190T>C missense mutation in BRCA1 codon 64 in a family pedigree
	31.	Of the 987 patients, 26 were found to carry one of the above mutations in the BRCA1 gene: 13 carried the c.5266dupC mutation, 6 carried the exon 24 deletion, 3 carried the exon 20 deletion, and 4 carried the G1738R mutation.
	32.	Three hundred and forty-five probands were examined for specific mutations of BRCA1/2 genes. The estimated penetrance for the age groups among BRCA1/2 carriers was 31.9% (<50 years) and 46.2% (> or =50 years
	33.	RAP80 was a significant factor for survival in patients treated according to BRCA1 levels
	34.	This deletion that eliminates the ATG initiation site in exon 2 and the sequence located in exons 2 and 3 encoding part of the RING finger domain of BRCA1 protein, is expected to abolish the function of this protein.
	35.	Lack of functional BRCA1 protein correlates with higher aromatase CYP19A1 levels of BRCA1 mutation carriers.
	36.	results have confirmed that BRCA1, RASSF1, GSTP1 and EPHB2 promoter methylation was found in each prostate cancer sample
	37.	no association between duration of epithelial ovarian cancer symptoms and BRCA mutation status
	38.	Women with early-onset triple-negative breast cancer are candidates for genetic testing for BRCA1, even in the absence of a family history of breast or ovarian cancer.
	39.	Genetic variants in the BRCA1 gene is associated with breast cancer.
	40.	MDM2SNP309G/G main effect on BRCA1/2 positive mutation carriers is linked to its effect on patients survival.
	41.	Absence of germline BRCA1 mutations in familial pancreatic cancer patients.
	42.	The presence of deleterious TP53 mutations in most, if not all, BRCA1-related breast cancers suggests that p53 loss of function is essential for BRCA1-associated tumorigenesis.
	43.	It was shown that the presence of the mutations in the BRCA1/2 genes among patients with bilateral breast cancer is associated with an earlier occurrence of the first and the second breast cancer than in patients without hereditary mutations.
	44.	Premature senescence is a major response to DNA cross-linking agents in BRCA1-defective cells in breast cancer.
	45.	Sequencing the RAD50, MRE11 and NBS1 genes of 8 patients from non-BRCA1/2 breast cancer families whose tumours showed concomitant reduction/loss of all three MRN-complex proteins revealed two germline mutations in MRE11
	46.	review of available data on ovarian cancers in the context of other investigations of BRCA-related transcriptional alterations
	47.	REVIEW: Germline mutations of the BRCA1 and BRCA2 genes confer a high life-time risk of ovarian cancer
	48.	REVIEW: BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome
	49.	REVIEW: BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome
	50.	impaired homologous recombination repair is one of the fundamental causes for genomic instability and tumorigenesis observed in patients carrying BRCA1, BRCA2, or PALB2 mutations
	51.	Wild-type BRCA1 (but not a cancer-associated mutant) significantly reduced ROS levels, determined by DCF fluorescence assays by flow cytometry and confocal microscopy
	52.	Data suggest that LXR ligands prevent LXRalpha from ubiquitination and degradation by detaching BARD1/BRCA1, which may be critical for early transactivation of ligand-stimulated LXRalpha through binding of LXRalpha to the promoters of target genes.
	53.	In human breast cancer, BRCA1 is significantly involved in the pathogenesis of centrosome aberrations.
	54.	Short-term hormone replacement therapy use does not negate the protective effect of prophylactic adnexectomy on breast cancer risk reduction in BRCA1 gene mutation carriers.
	55.	Incidence of moderate and severe malocclusion is at least not increased among BRCA1 carriers.
	56.	Data suggest that BRCA1 is a general repressor of RNA pol III transcription.
	57.	four members of the BRCA1-A complex possess a polyubiquitin chain-binding capability, thus forming a complex that might facilitate the deubiquitinating activity of the deubiquitination enzyme BRCC36 or the E3 ligase activity of the BRCA1/BARD1 ligase.
	58.	A stable complex containing MERIT40 acts early in DNA damage response and regulates damage-dependent BRCA1 localization.
	59.	MERIT40 represents a novel factor that links BRCA1-Rap80 complex integrity, DSB recognition, and ubiquitin chain hydrolytic activities to the DNA damage response.
	60.	all analysed mutation carriers of the 4154delA mutation of the BRCA1 gene share a common ancestry.
	61.	BRCA1 Y101X is the first reported recurrent mutation occurring in patients of African ancestry for which prevalence has been determined
	62.	a limited role for the three Ashkenazi BRCA1/2 founder mutations in cutaneous malignant melanoma risk among the Ashkenazi Jewish population
	63.	analysis of BRCA1 and BRCA2 mutations in Malaysia
	64.	G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients
	65.	analysis of breast cancer risk variation in BRCA1 and BRCA2 mutation carriers
	66.	Increasing number of full-term pregnancies among parous women, OC use, and tubal ligation are associated with a reduced risk of ovarian cancer for BRCA1 mutation carriers.
	67.	Elevated BRCA1 levels are associated with prostate cancer
	68.	High BRCA1 mRNA expression confers poor prognosis in early non-small-cell lung cancer, and the combination of high BRCA1 and low XPG expression still further increases the risk of shorter survival
	69.	report provides a review on BRCA1, a promising gene determinant of response to different types of chemotherapy and its potential applications as a new molecular marker in lung cancer [review]
	70.	BRCA1 exon 11 sequences for the 2 breast cancer cases were found to be heterozygous for an A nucleotide insertion at position 2080 of the transcript
	71.	EZH2 is important in ER-negative breast cancer growth in vivo and in vitro, and BRCA1 is required for the proliferative effects of EZH2
	72.	BRCA1 5589del8 mutation is likely to be the "founder mutation" in Chinese population, but it should be confirmed by further studies.
	73.	Evidence suggests BRCA1 is a potential marker of response to platinum chemotherapy in EOC with BRCA1 deficiency predicting enhanced response. Evidence suggests that loss of BRCA1 function results in reduced response to antimicrotubule-based chemotherapy.
	74.	The mutation of BRCA1 gene may be related to Uigur women breast cancer and bilateral breast cancer.
	75.	Functional analysis indicated that BRCA1 variants S1613C, Q1826H, and M1652I are likely to be neutral, whereas variants V1833M, Delta exons 16/17, and 5673insC are likely to represent deleterious variants.
	76.	Altered growth and differentiation properties may render BRCA1-mutant mammary epithelial cells to be disposed to the development of epidermal growth facor receptor positive breast cancers.
	77.	one large deletion in BRCA1, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer in Finland
	78.	the presence of a CHEK2 mutation in women with a BRCA1 mutation may not increase their risk beyond that of the BRCA1 mutation alone.
	79.	deleterious genetic variants in the BRCA1 gene in the Czech population
	80.	the NBS1/ATR/BRCA1 repair machinery affects centrosome behavior, and this might be a crucial role in the prevention of malignances.
	81.	BRCA1 knockdown in mammary epithelial cells causes telomere dysfunction.
	82.	role of disease associated germ line mutations in BRCA1 gene among Chinese early-onset breast cancer patients
	83.	study demonstrates that BRCA1 controls cell motility and invasion through its regulation of several key genes which are crucial in the progression of breast cancer
	84.	BRCA1, ATR and gammaH2AX in the human may be part of a system which signals unsynapsed chromosomes at pachytene and may lead to their silencing.
	85.	The results suggest that somatic mutations of BRCA1 are infrequent in sporadic breast cancer, and nucleotide alterations were more easily observed in the breast cancer tissue DNA.
	86.	EGFR and BRCA1 might be candidate therapeutic targets in triple-negative breast cancer
	87.	TP53 mutation is highly recurrent in basal-like carcinoma independently of BRCA1 status, but not a common feature of BRCA1 luminal tumors.
	88.	The BRCA1 gene is located on the long arm of chromosome 17.BRCA 1 and 2 mutations account for 5% to 10% of breast cancer cases.
	89.	decreased BRCA1 levels modify ERalpha-mediated transcription and regulation of cell proliferation in part by altering ERalpha-coregulator association.
	90.	The presence of a heterozygous BRCA1 mutation is not associated with increased levels of indicators of oxidative stress in serum or lymphocytes.
	91.	the presence of the E1038G polymorphism in BRCA1 exon 11 was significantly associated with protein expression and immunohistochemistry of BRCA1 doesn't discriminate between familial and sporadic breast cancer.
	92.	Histopathological criteria and selection algorithms for BRCA1 genetic testing.
	93.	Positive BRCA1 germline mutation in a woman with fallopian tube cancer following BRCA1 breast cancer.
	94.	Founder mutations for BRCA1 and BRCA2 were identified in 5.5% of Ashkenazi patients operated on for pancreatic adenocarcinoma.
	95.	BRCA1-5083del19 mutation carriers of two neighboring regions of Italy (Calabria and Sicily) may make it possible to identify the real ancestor of this mutation.
	96.	early radiation exposure may be a risk factor for breast cancer in BRCA1 carriers
	97.	The study demonstrates for the first time that microsatellite-stable FHIT-negative sebaceous gland carcinomas accumulate mutations that target central components of the HRR network.
	98.	The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation
	99.	Two novel BRCA1 splicing variants targeted to different subcellular compartments in the transfected tumor cell lines.
	100.	Novel germline 3536delT mutation in BRCA1 gene, detected in a 43-year-old woman with bilateral ovarian adenocarcinoma.
	101.	BRCA1/2 mutations are significantly more common in Italian women who developed breast cancer
	102.	FANCD2 expression is absent in 10-20% of sporadic and BRCA1-related breast cancers, indicating that somatic inactivating (epi)genetic events in FANCD2 may be important in both sporadic and hereditary breast carcinogenesis
	103.	comprehensive study of BRCA1 promoter polymorphisms found four variants that altered promoter activity and with the most significant contribution from c.-2265C-->T, which could affect susceptibility to breast cancer in the Chinese population
	104.	heterogeneous ethnicity increases the variety of BRCA1 and BRCA2 mutations that can be found in Spanish populations
	105.	there is no relationship between BRCA1 mutation and pancreatic cancer development in Polish population
	106.	there is no evidence of sex ratio skewing in offspring of female BRCA mutation carriers
	107.	A case-control study is reported on infertility, treatment of infertility, and the risk of breast neoplasms among women with BRCA1 mutations.
	108.	analysis of breast cancer genes that may modify risk in BRCA1/2 mutation carriers
	109.	the BRCA1 interacting protein CTIP has a role in breast cancer
	110.	Meta-analysis of gene-disease association and gene-environment interaction. (HuGE Navigator)
	111.	NFBD1, 53BP1 and BRCA1 have both unique and redundant functions in radiation-induced phosphorylation and localization events in the ATM-Chk2 pathway.
	112.	Results suggest that BAP1 and BRCA1/BARD1 coordinately regulate ubiquitination during the DNA damage response and the cell cycle.
	113.	Higher BRCA1 mRNA expression is significantly correlated with advanced disease and ERBB2 overexpression in breast cancers.
	114.	Considering the low frequency of BRCA1 mutation in the group and the absence of features characterizing BRCA1-dependent tumours in the only BRCA1-positive case, pleomorphic adenoma of salivary glands should not be recognized as a BRCA1 dependent tumour.
	115.	truncated proteins arising from BRCA1 185delAG mutation increase Akt-mediated apoptosis, suggesting a possible mechanism by which ovarian cancer patients with this germline BRCA1 mutation may respond better to initial chemotherapy.
	116.	The interaction between BRCA1 and acetyl-CoA-carboxylase is regulated during cell cycle progression.
	117.	The findings of this study suggest that the AACC haplotype of the BRCA1 gene is an important prognostic marker in NSCLC patients treated with platinum combination chemotherapy.
	118.	Association between BRCA1 mutations and the presence of breast cancer in a Cuban population.
	119.	This article reviews the evidence of the association between BRCA1 polymorphisms and the risk of breast neoplasms.
	120.	analysis of the effectiveness of screening in diagnosing early stage ovarian cancer in BRCA1 and BRCA2 mutation carriers
	121.	DNA repair proteins BRCA1 and ERCC1 have roles in inhibiting progression of ovarian cancer
	122.	Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
	123.	In our current cohort of 36 consecutive patients with uterine papillary serous carcinoma (not yet published), we have identified six cases of BRCA carriers (16%)
	124.	germ-line BRCA1 or BRCA2 mutations may have a role in response to primary platinum-based chemotherapy
	125.	Results describe the response of BRCA1 at DNA double-strand breaks produced by laser microirradiation, and show that accumulation of the BRCA1 N terminus, but not the C terminus, at DSBs depended on Ku80.
	126.	In a population well beyond the average age of breast/ovarian cancer onset, 21 different sequence variants in the BRCA1 gene (one novel) and 36 variants in the BRCA2 gene (7 novel) were detected.
	127.	Results show that p14ARF associates with Brca1, which may play a major role in tumor suppression.
	128.	Among the genes showing perturbation of their expression, periostin was found to be up-regulated in HeLa/(5083del19)BRCA1 cells to an extent of 72-fold versus HeLa/(pcDNA3.1/empty) and 76-fold versus HeLa/(wt)BRCA1 cells
	129.	Cross-sectional analysis of germ-line BRCA1 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer is reported.
	130.	AhR, a transcription factor, can bind specifically to AD1 in the C-terminal region of BRCA1 and affect BRCA1's ability to regulate transcription activity.
	131.	BRCA1 germline mutations likely predispose to the development of pancreatic cancer
	132.	BRCA1/2 in high-risk African-American women with breast cancer: providing genetic testing through various recruitment strategies is reported.
	133.	this kinetic analysis is similar to the K d values measured using steady-state SPR, isothermal titration calorimetry, and fluorescence anisotropy. The nature of BRCA1-BRCT may facilitate the binding of BRCA1 to different phosphorylated protein targets.
	134.	transcription-induced degradation of Top1 is Brca1 dependent, suggesting a role for Brca1 in the repair or removal of transcription-blocking Top1-DNA cleavage complexes.
	135.	interactions that form two- and three-way networks in which BRCA1 plays a dominant and central role
	136.	characterized BRCA1 and BRCA2 gene polymorphic variants in familial breast cancer
	137.	BRCA1 or BRCA2 mutations have roles in breast cancer in smokers
	138.	There is a highly significant reduction in life expectancy in BRCA1 compared with BRCA2 carriers in ovarian cancer.
	139.	A modified natural IVF cycle is an effective and safe solution for BRCA1 or BRCA2 mutation gene carrier women with couple infertility.
	140.	In BRCA1 germline mutation related breast cancer, functional HIF-1alpha overexpression is seen at a much higher frequency than in sporadic breast cancer.
	141.	MDM2 SNP309 accelerates breast and ovarian carcinogenesis in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent.
	142.	The site of first distant metastasis is different between BRCA1- and BRCA2-associated and sporadic breast cancer patients.
	143.	AKT1 inhibits homologous recombination by inducing cytoplasmic retention of BRCA1 and RAD51.
	144.	The mRNA expression of BRCA1 is potentially a useful tool for selecting NSCLC patients for individualized chemotherapy
	145.	Skewed X inactivation occurs at an increased frequency in BRCA1 (and possibly BRCA2) mutation carriers compared with control subjects and is associated with a statistically significant increase in age at diagnosis of breast and ovarian cancer.
	146.	Mutation of the PP1-binding motif affects BRCA1 redistribution in response to DNA damage.
	147.	Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes.
	148.	polymorphisms in BRCA1 gene have a role in breast cancer in Sri Lanka
	149.	BRCA1-associated breast cancers show less promoter methylation compared with sporadic breast carcinomas indicating a difference in diseases etiology.
	150.	overexpression of wild-type BRCA1 suppressed the expression of GRP78, whereas expression of mutant BRCA1 gene or targeted inhibition of endogenous BRCA1 using small-interfering RNA (siRNA) enhanced GRP78 expression.
	151.	BRCA1 is an important protein, which affects 5F-203-mediated cytotoxicity.
	152.	BRCA1 mutations are associated with breast and ovarian cancer.
	153.	BRCA1 large genomic rearrangement is associated with breast and ovarian cancer.
	154.	Four BRCA1 mutations were found in a sample of 64 families with a pedigree of male breast neoplasms.
	155.	BRCA1 overexpression sensitizes cancer cells to lovastatin via regulation of cyclin D1-CDK4-p21WAF1/CIP1 pathway
	156.	Promoter hypermethylation of the BRCA1 gene was detected in 51% of our biopsies, among which 67% did not express the respective protein suggesting that hypermethylation could be considered as an inactivating mechanism for BRCA1 expression
	157.	Data observed a much higher frequency of BRCA1 mutations among young breast cancer patients than observed in Europe, suggesting biological differences.
	158.	Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
	159.	BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.
	160.	BRCA1 mutation is associated with breast cancer
	161.	A high mutation detection rate and the frequent occurrence of a limited array of recurring mutations allow a simple and fast initial test for BRCA1/2 mutation screening in families with Slovenian ancestry
	162.	BRCA1 and BRCA2 genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%
	163.	Estrogen receptor alpha and BRCA1 are specifically targeted for methylation in sporadic breast cancers
	164.	Our data should give confidence in using immunohistochemical detection of BRCA1 and its altered expression.
	165.	A combination of functional, crystallographic, biophysical, molecular and evolutionary techniques, and classical genetic segregation analysis were used to demonstrate that the BRCA1 missense variant M1775K is pathogenic.
	166.	32 pathogenic rearrangements in the BRCA1 gene were found
	167.	Women who test positive for the familial BRCA1/BRCA2 mutation are likely to have cumulative breast cancer risks in keeping with the estimates obtained originally from large families. This is particularly true for women born after 1940.
	168.	The promoter methylation status of a panel of critical growth regulatory genes, RASSF1A, RARbeta2, BRCA1 and HOXA5, in 54 breast cancers and 5 distant normal breast tissues of Indian patients, was analyzed.
	169.	These observations are consistent with the idea that BRCA2, but not BRCA1, is a tumor suppressor of prostate cancer.
	170.	we estimate selection on BRCA1 alleles leading to susceptibility to late-onset breast and ovarian cancer. For this, we integrate estimates of the risk of developing a cancer for BRCA1-carriers into population genetics frameworks
	171.	The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality.
	172.	BRCA1/2 rearrangements is not advantageous in male breast neoplasm (MBC) cases not belonging to high-risk breast cancer families and that common CHEK2 mutations play an irrelevant role in MBC predisposition in Italy.
	173.	Tip60 enables ultraviolet rays (UV)-induced dna damage response (DDR) signaling even in the absence of p53, whereas preaccumulated p53 suppresses UV-induced DDR by reducing the levels of BRCA1.
	174.	An important interaction between BRCA1 and ERK1/2 in the regulation of cellular response after IR-induced DNA damage in MCF-7 cells.
	175.	We analyzed the haplotypic profile of seven Brazilian carriers of 5382insC to characterize a possible founder effect of BRCA1 5382insC mutation
	176.	The proximal BRCA1 promoter segment comprises cis-acting elements that are targeted by Sp-binding and CRE-binding proteins that contribute to regulation of BRCA1 transcription.
	177.	Report an SNP haplotype analysis of BRCA1 gene in members of a hereditary breast and ovarian cancer led to a long deletion at a minimum of expns 11 through 18.
	178.	By controlling gamma-TuRC localization, BRCA1 appropriately inhibits centrosome function.Loss of BRCA1 may result in centrosome hyperactivity, supernumerary centrosomes & aneuploidy.
	179.	From a population database of BRCA1 and 2 mutation carriers in Southwestern Ontario, Canada, we identified three women with advanced-stage endometrial cancer.
	180.	Immunohistochemical assessment of BRCA1 expression could provide additional clinically relevant information in routine classification of breast cancer.
	181.	Founder BRCA1 mutation is associated with male breast cancer
	182.	The mutation distributions are comparable with those from Scandinavian and European studies and indicate that the Danish BRCA1 and BRCA2 mutations are a mixture of Scandinavian mutations and European mutations including two of the Ashkenazi mutations.
	183.	BRCA1 and BRCA2 mutation carriers had similar expression profiles, with some subclustering of missense mutation carriers.
	184.	The 1499insA mutation shared by the investigated subjects was estimated to be present in an individual living about 30 generations ago or 750 years.
	185.	32 unrelated Tunisian patients who had at least 1 first degree relative affected with breast &/or ovarian cancer were analysed; identified 4 BRCA1 frameshift mutations: c.4041delAG, c.2551delG & c.5266dupC already described & 1 novel mutation, c.211dupA
	186.	The binding of the splicing factors hnRNPA1/A2 and DAZAP1 is the primary determinant of T6 BRCA1 exon 18 exclusion.
	187.	biochemical analysis of human BRCA1 BRCT domains in complex with a phospho-peptide from human ACC1
	188.	Secondary mutations in BRCA1 may mediate resistance to platinum in BRCA1-mutated ovarian tumors.
	189.	low-level promoter methylation of BRCA1 occurs in normal tissues of the body and is associated with the development of BRCA1-like breast cancer.
	190.	Brca1-deficient mouse mammary tumors harbor heterogeneous cancer stem cell populations, and CD44+/CD24- cells represent a population that correlates with human breast cancer stem cells.
	191.	described method proved to be simple, cost-effective, easy to perform and rapid enough for routine use as a screening method in high-risk families where 5382insC mutation is the most common BRCA1 mutation
	192.	The data presented here provide new insight into the role of endogenous BRCA1 as a mediator of apoptosis and show that BRCA1 functions as a molecular determinant of response to a range of cytotoxic chemotherapeutic agents.
	193.	Tubal p53 signature merits serious consideration as an important early event in serous carcinogenesis in BRCA+ women.
	194.	A total of 14 BRCA1 and 17 BRCA2 sequence alterations, of which eight are novel, are reported.
	195.	BRCA1 is transiently excluded from the nucleus during the early part of S phase in the absence of DNA damage. Breast cancer cells predominantly expressing nonnuclear BRCA1 correlate with the percentage of cells within early S phase.
	196.	Data suggest that ubiquitination of topoisomerase IIalpha is dependent on oxidative stress, and that BRCA1 may be involved in the ubiquitination.
	197.	Breast cancers among BRCA1 carriers frequently do not exhibit sensitivity to docetaxel in the neo-adjuvant setting. It is likely that normal BRCA1 is required for clinical response to mitotic spindle poisons.
	198.	Allelic imbalance affecting BRCA1 and to a lesser extent BRCA2 may contribute to both familial and non-familial forms of breast cancer.
	199.	we review the DNA-damage response network consisting of FA and BRCA proteins and what is known about their involvement in breast cancer susceptibility
	200.	Genome-wide association study of gene-disease association. (HuGE Navigator)
	201.	The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.
	202.	110 mutations were identified in BRCA1 in families containing at least one reported ovarian cancer diagnosed less than 50 years or at any age with family history of breast or ovarian cancer for mutations in BRCA1 and BRCA2.
	203.	Brca1 regulates Activation-induced cytidine deaminase-dependent DNA lesion repair and is required to recruit ubiquitinated FancD2 to DNA damage.
	204.	cell cycle-dependent complex formation of BRCA1, CtIP, and MRN contributes to the activation of HR-mediated DSB repair in the S and G(2) phases of the cell cycle.
	205.	Our data suggest that the PHB 3'UTR polymorphism does not modify ovarian cancer risk in women carrying one of the three Polish BRCA1 founder mutations.
	206.	We studied 10 BRCA1 and 12 BRCA2 variants identified in Australian families with breast cancer.
	207.	Increased somatic mutation frequency from a manifesting carrier of the Q1200X mutation in BRCA1.
	208.	two BRCA1 mutations, 5382insC and G1738R, both located in exon 20, account for 46% of the families found to carry a mutation in Greek breast/ovarian cancer families.
	209.	models used to analyze age-incidence curve of breast cancer in women carrying gerrmline BRCA1 or BRCA2 mutations; results suggest in carriers there are 2 events which may occur at rates similar to mutation rates for normal cells leading to breast cancer
	210.	defects in BRCA1 chromatin structure may contribute to dysregulated expression of BRCA1 seen in breast tumors
	211.	These findings strongly implicate MTA1 in the transcriptional repression of BRCA1 leading to abnormal centrosome number and chromosomal instability.
	212.	BRCA1 exerts its tissue-specific function through the regulation of progesterone receptor and estrogen receptor-alpha [review]
	213.	review of BRCA1/2 associated hereditary breast cancer [review]
	214.	PGE(2) via EP(2) and EP(4) activates the cAMP-->PKA-->CREB pathway leading to enhanced CYP19 transcription and increased aromatase activity through BRCA1 and p300
	215.	event free survival of women with familial breast cancer affected by a second primary cancer, who are BRCA1 mutation carriers is better
	216.	Since BRCA1/2 mutation carrier status is associated with more aggressive disease, it is a prognostic factor for PRCA outcome.
	217.	IGF1-19/-19 genotype was significantly more common among BRCA1 mutation carriers (14.2%) than among non-carriers (4.8%)
	218.	PTEN germline mutations are rare
	219.	families appear to exhibit features most consistent with BRCA1 and BRCA2 carrier status
	220.	Overexpression of p53 with loss of p21 expression occurred significantly more frequently in high grade serous carcinomas with epigenetic loss of BRCA1, compared to high grade serous tumors without loss of BRCA1
	221.	Self-image and self-disclosure concerning prophylactic mastectomy (PM) for women with a BRCA1/2 mutation.
	222.	Mutation of BRCA1 gene is an indication of susceptibility to breast and ovarian neoplasms.
	223.	incidence of mutations in the BRCA1 and BRCA2 genes in the studied sampling of 74 patients with ovarian cancer was 19%; majority of mutations (86%) were detected in BRCA1 gene, where 5382insC mutation predominated (58%)
	224.	Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
	225.	Clinical trial of genetic testing. (HuGE Navigator)
	226.	Observational study of gene-gene interaction. (HuGE Navigator)
	227.	Meta-analysis and HuGE review of genotype prevalence, gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
	228.	Observational study of genetic testing and healthcare-related. (HuGE Navigator)
	229.	Observational study of gene-disease association and genetic testing. (HuGE Navigator)
	230.	Observational study of healthcare-related. (HuGE Navigator)
	231.	Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
	232.	Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
	233.	Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
	234.	Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
	235.	Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
	236.	Meta-analysis of gene-disease association. (HuGE Navigator)
	237.	Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
	238.	Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
	239.	Observational study of gene-disease association. (HuGE Navigator)
	240.	Observational study of gene-environment interaction. (HuGE Navigator)
	241.	Observational study of genotype prevalence. (HuGE Navigator)
	242.	Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
	243.	Observational study of genetic testing. (HuGE Navigator)
	244.	BRCA1 mutations are associated with breast ans ovarian cancer
	245.	Silent-RNA-mediated downregulation of BRCA1 in primary human breast cancer gland tumor cells triggers upregulation of endogenous intracellular IGF-I in vitro.
	246.	support a role for BRCA1 mRNA expression as a predictive marker of survival in sporadic epithelial ovarian cancer.
	247.	Tumors grow quickly in women with BRCA1 mutations and in young women.
	248.	Risk of prostate cancer in BRCA1 carriers varies with the position of the mutation
	249.	BRCA1 genomic rearrangements is associated with breast and ovarian cancer
	250.	A role for BRCA1/2 mutations in colorectal cancer risk in a subgroup of breast cancer and/or ovarian cancer affected carriers.
	251.	COBRA1 and BRCA1 may engage in common gene regulatory pathways to suppress breast cancer progression.
	252.	Loss of BRCA1 may result in the accumulation of genetically unstable breast stem cells, providing prime targets for further carcinogenic events.
	253.	prevalence of BRCA1 & BRCA2 mutations in breast cancer patients with affected relatives in Tunisia; 4 mutations in BRCA1 were detected, a novel frame-shift mutation (c.211dupA) & 3 other frameshift mutations--c.4041delAG, c.2551delG and c.5266dupC
	254.	Authors identified BRCA1/2 germline mutations in 21 (13.9%) patients. Seventeen (81%) of carriers have BRCA1 and four (19%) have BRCA2 mutation. BRCA1/2 carriers have a distinctly longer overall survival than sporadic cases.
	255.	study confirms that, among Ashkenazi ovarian cancer patients, BRCA1/2 mutations are associated with improved long-term survival
	256.	Analysis resulted in the identification of 25 and 52 variants in the BRCA1 and BRCA2 genes, respectively in breast or ovarian cancer.
	257.	Results suggest that the charge and stechiometry variations determined by the changes in the amino acids Y179C, F486L and N550H in BRCA1 might produce an effect on the conformation of the protein and, consequently, on its function in breast cancer.
	258.	Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes
	259.	BRCA1 truncated protein could not be detected, even when nonsense-mediated mRNA decay (NMD) mechanism was inhibited. This suggests that BRCA1 truncated protein is unstable
	260.	data showed high prevalence of BRCA1 gene mutation among breast or breast/ovarian cancer families in South India and breast cancer patients having BRCA1 mutations were associated with poor prognosis
	261.	Data indicate that BRCA1 are the major susceptibility genes for ovarian cancer but that other susceptibility genes may exist.
	262.	BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer
	263.	illustrate a molecular mechanism for estrogen/ERalpha signals in BRCA1-associated tissue-specific tumor formation, and identify key elements in estrogen/ERalpha-signaling cascade that may serve as therapeutic targets for BRCA1-associated tumorigenesis
	264.	Data suggest that BRCA1 has the ability to direct the synthesis of specific polyubiquitin chain linkages, depending on the E2 bound to its RING.
	265.	evaluation of the risks of developing breast carcinoma for male BRCA1 and BRCA2 mutation carriers; both the relative and cumulative risks were higher for BRCA2 mutation carriers than for BRCA1 mutation carriers
	266.	BRCA1 is not required for the ubiquitylation of human RNA polymerase II.
	267.	Results point to a critical role for BACH1 helicase activity not only in the timely progression through the S phase by association with BRCA1/BRCA2, but also in maintaining genomic stability.
	268.	BRCA1 mutation carriers without cancer had increased chromosome breaks as well as breaks and gaps per cell post irradiation
	269.	review of some of the most well-known and significant examples of founder mutations in BRCA genes found in European and non-European populations [review]
	270.	Two variants of nucleotide sequence observed in the number of patients were classified as DNA polymorphisms (P871L and S1436S) rather than mutations as they were not tightly associated with the increased risk of breast cancer.
	271.	the human Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage
	272.	identified a BRCA1 mutation with a possible founder effect
	273.	Data suggests that the IGF-IR gene is a physiologically relevant downstream target for BRCA1 action.
	274.	Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development.
	275.	Higher BTAK expression was found in ovarian cancer cells compared to ovaries without cancer but with known BRCA1/2 mutation or strong family history.
	276.	Individuals homozygous for the 17GT allele for BRCA1 D17S1323 were more likely to have spina bifida lesions located caudally, while heterozygotes with the 17GT allele for BRCA1 D17S1323 had a more rostral lesion.
	277.	Carriers of BRCA1 mutations fare significantly worse than carriers of BRCA2, even when their tumors are diagnosed at an apparently early stage.
	278.	downregulation of BRCA1 expression in MDA-MB-468 cells reduced the apoptotic response to TRAIL
	279.	Overexpression of the homologous recombinase RAD51 in a DT40 BRCA1Delta/Delta mutant rescues defects in proliferation, DNA damage survival, and homologous recombination.
	280.	High frequency of BRCA1/2 and p53 somatic inactivation in sporadic ovarian cancer.
	281.	BRCA1 alters the response of breast cancer cells to antiestrogen therapy by directly modulating ER alpha expression.
	282.	An nsSNP (rs1800751) could be an important candidate for the breast cancer caused by the BRCA1 gene.
	283.	The clinical significance of 1,433 sequence variants of unknown significance (VUSs) in the BRCA genes, was assessed.
	284.	High-risk patients with BRCA1-negative tumors should be screened first for BRCA2 gene.
	285.	Prevalence of BRCA1 mutations in breast cancer cases among racial and age groups and show key predictors of carrier status for both White and Black women and women.
	286.	Breast cancer cells lacking cancer predisposition genes BRCA1 are more sensitive to cyclin-depende kinase inhibitors.
	287.	it would have been difficult to map BRCA1 in an Ashkenazi case-unrelated control association study using anonymous markers that were linked to the founder mutations
	288.	4843delC, a deleterious mutation of the BRCA1 gene, is due to a founder effect originating in the Sicilian region of Italy.
	289.	Inactivation of a single gene within the BRCA1 pathway can increase risks for multiple cancers and inactivation of a different gene in the same pathway may have similar effects.
	290.	The telomere dysfunction phenotype in Brca1-deficient cells of transgenic mice suggests that loss of telomere integrity might contribute to chromosome end dysfunction and permit the formation of potentially oncogenic translocations.
	291.	BRCA1 function might be lost in breast tumor cells not only through mutation, but also via abnormal cytoplasmic location.
	292.	analysis of BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families
	293.	Study in Brca1 mice demonstrates a possible increase in cancer risk following radiation, given the differences of phenotypes of Brca1 heterozygous mutation in mice and human.
	294.	BRCA1 and BRCA2 mutation status have roles in inter-cell-line phenotypic variability after irradiation of lymphoblastoid cell lines
	295.	functional polymorphisms in the MTHFR gene modify the risk of breast and may potentially alter the risk of ovarian cancer in women with BRCA1, an inherited predisposition
	296.	analysis of BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer
	297.	BRCA1 splice variant BRCA1a/p110 can induce apoptosis of human breast, ovarian and prostatic cancer cells.
	298.	We identified and characterized a novel large BRCA1 deletion in five unrelated families-four of Mexican ancestry and one of African and Native American ancestry, suggesting the possibility of founder effect of Amerindian or Mestizo origin.
	299.	BRCA1 requires BARD1 for targeting to different types of DNA lesion, and that distinct C-terminal sequences mediate selective recruitment to sites of double- or single-strand DNA damage.
	300.	findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia
	301.	Cyclin D1/cdk4-mediated phosphorylation of BRCA1 inhibits the ability of BRCA1 to be recruited to particular promoters in vivo.
	302.	Regulates Akt signaling and the PI3K/Akt pathway modulates the ability of BRCA1 to repress estrogen receptor-alpha.
	303.	in conclusion, the BRCA1-Gln356 allele presents risk factor in the onset and progression of breast cancer in Czech population
	304.	investigation of the contribution of BRCA-1 and BRCA-2 germline mutations to the clinical features and outcome in 66 Italian women with early-onset breast cancer
	305.	A mutation in the 5' UTR of the BRCA1 gene downregulates translational efficiency of the protein in breast cancer.
	306.	testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers
	307.	Study identified a specific spectrum of germline BRCA1/BRCA2 mutations in Portuguese families with inherited predisposition to breast/ovarian cancer and found evidence for genetic anticipation regarding age of diagnosis in succeeding generations.
	308.	These findings point to the existence of an association of ERBB2 allelic variants at both loci with specific breast tumor phenotypes.
	309.	There is a low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients.
	310.	Mutations found in a significant proportion of women with ductal carcinoma in situ who presented for hereditary risk assessment.
	311.	identify a new post-transcriptional regulatory axis and a novel mechanism for modulating the levels of BRCA1 protein, with possible implications for understanding the mechanisms underlying BRCA1 repression in breast cancer
	312.	Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer. Estimating the penetrance of a mutation using different approaches, we found that both the choice of study population and statistical method affect the results
	313.	unlikely that annual screening will reduce mortality from ovarian cancer in BRCA1/2 mutation carriers.
	314.	Duration of oral contraceptive use, especially before first full-term pregnancy, may be associated with an increasing risk of breast cancer among both BRCA1 and BRCA2 mutation carriers.
	315.	These data suggest that BRCA2 mutation carriers with ovarian cancer may have better survival than BRCA1 carriers and non-carriers.
	316.	Ninteen percent of the women who developed both invasive breast and ovarian tumors carried one of the analyzed BRCA1 gene mutations but none of the women were positive for the analyzed BRCA2 mutation.
	317.	We have compared the X inactivation pattern in lymphoblastoid cell lines from 38 females carrying heterozygous BRCA1 mutation to 41 controls. X inactivation analysis was assessed on the polymorphic CAG repeat within the human androgen receptor gene.
	318.	The greatest proportion of serous cancer risk in BRCA mutation-positive women should be assigned to the fimbria rather than the ovary.
	319.	BRCA1 is one of molecular targets of trichostatin A
	320.	BRCA1- and p53-deficient mouse mammary tumors exhibit dramatic genomic instability, and their molecular signatures resemble those of human BRCA1-mutated breast cancers.
	321.	analysis of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil
	322.	Variation in the BRCA1 gene is associted with prostate cancer
	323.	Correlation was observed between promoter methylation and loss of protein expression confirming our hypothesis that promoter methylation is an important mechanism for transcriptional silencing of these genes in breast cancer
	324.	Forms a heterodimer with the BARD1 protein, and the resulting complex functions as an E3 ubiquitin ligase that catalyzes the synthesis of polyubiquitin chains.
	325.	mutational analysis in a case of familial endometriosis
	326.	role of BRCA1 and BRCA2 mutation in pre-disposition to ovarian cancer.
	327.	In BRCA1, two novel frame shift mutations were identified as 3761-3762delGA and 2616-2617ins10.
	328.	Identification of cancer-specific splice forms of BRCA1 protein.
	329.	thermal unfolding of variant V1833M is only moderately affected relative to wild-type BRCT
	330.	Recent studies indicate that BRCA1 interacts with and regulates the activity of estrogen receptor alpha (ER alpha) and the androgen receptor. Its expression is regulated by carcinogens and anticarcinogens that modulate ER alpha signaling.
	331.	BRCA mutations were present in 12.7% of the high risk patients, compared with 2.8% of the unselected patients.
	332.	BRCA1 function is regulated by MDC1 in DNA damage checkpoint control
	333.	results suggest that E2F6 represses transcription of the brca1, ctip, art27, hp1alpha, and the rbap48 genes and depletion of E2F6 resulted in the recruitment of E2F1 to the target promoters
	334.	By confocal analysis of breast cancer cells, confirmed by immunogold electron microscopy, BRCA1 localizes to microtubules of the mitotic spindle, to the walls of the centrioles and to pericentriolar fibers at centrosomes.
	335.	BRCA1 mutations are associated with breast and ovarian cancer
	336.	interacts with FANCD2 in S phase cell lines
	337.	Results show that wild type BRCA1 specifically represses the expression of osteopontin, a multifunctional estrogen-responsive gene implicated in oncogenic transformation, particularly that of the breast.
	338.	We identify the first BRCA1 alternative splice variant containing an additional in-frame exon. This previously unknown exon 13A-containing transcript is generated by the insertion of 66 nucleotides between exons 13 and 14.
	339.	Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot
	340.	ERK1/2 signaling has a critical role in the regulation of BRCA1 function on controlling the G2/M checkpoint responses
	341.	BRCA1 germline mutations in Indian familial breast cancer.
	342.	Earlier menopause in carriers of the BRCA1 mutation is associated with hypergonadotropic activity and may predispose to ovarian cancer at a younger age
	343.	These results suggest a possible role for BRCA1 in modulating cisplatin sensitivity in head and neck cancer cells.
	344.	Data report the isolation of a holoenzyme complex termed BRCC containing BRCA1, BRCA2, and RAD51, which displays increased association with p53 following DNA damage and ubiquitinates p53 in vitro.
	345.	Using chromosomal stability after ICL damage as the end point, we find that BRCA1 functions in more than just the FA pathway for genome maintenance, whereas BRCA2 appears to act predominantly in the FA pathway.
	346.	Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families
	347.	Our findings support a model in which an Estrogen Receptor alpha/AP-1 complex modulates BRCA-1 transcription under conditions of estrogen stimulation.
	348.	Results show that in the presence of a premature termination codon at position 36 or 39, translation reinitiation occurs in the BRCA1 minigenes at position 128.
	349.	inactivated in ovarian cancer
	350.	Cancer risk estimates for mutation carriers identified in a risk evaluation program
	351.	cancer incidence in mutation carriers
	352.	Cancer risks in carriers
	353.	BRCA1 and BARD1 are associated with the RNA polymerase II holoenzyme.
	354.	BRCA1 is upregulated both in human male and female germ cells and in preimplantation embryos; its dysfunction might alter human embryogenesis or fertility.
	355.	BRCA1-dependent ubiquitination inhibits centrosomal microtubule nucleation activity
	356.	Effective strategies have been developed to reduce the risk for the development of breast and ovarian cancer in women with BRCA1/2 mutations, making genetic testing for these mutations an important part of the management. [REview]
	357.	BRCA1 cooperates with NUFIP and P-TEFb to activate transcription by RNA polymerase II
	358.	Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.
	359.	There is no significant effect of AIB1 genetic variation on breast cancer risk in BRCA1 mutation carriers.
	360.	BRCA1 plays a role in cellular repair of oxidatively induced DNA lesions
	361.	a component of the IFN-gamma-regulated signaling pathway and may play a role in the regulation of IFN-gamma-mediated apoptosis.
	362.	3 mutations in the BRCA1 gene were identified: 2 novel mutations (a missense mutation in exon 7 near the RING finger domain & a one base pair deletion in exon 11 which results in protein truncation)& 185 delAG, previously described in Ashkenazi Jews.
	363.	enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein
	364.	BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export
	365.	risks of breast and ovarian cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2
	366.	findings show that the BRCA1 BRCT domain directly interacts with phosphorylated BRCA1-Associated Carboxyl-terminal Helicase (BACH1); interaction is cell cycle regulated and required for DNA damage-induced checkpoint control
	367.	identified tandem BRCT (BRCA1 carboxyl-terminal) domains in BRCA1 as phosphoserine- or phosphothreonine-specific binding modules that recognize substrates phosphorylated by the kinases ATM and ATR in response to gamma-irradiation
	368.	A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing.
	369.	BRCA1 acts as a differential modulator of apoptosis in a breast cancer cell line depending on the nature of the cellular insult caused by chemotherapy.
	370.	BRCA1-BARD1 mediates novel polyubiquitin chains that may be distinctly edited by 26 S proteasome from conventional Lys-48-linked polyubiquitin chains.
	371.	Screening for large genomic rearrangements in the BRCA1 gene in the Czech high-risk patients is highly supported by this study
	372.	BRCA1 AND VHL LOH is infrequent in sporadic breast carcinoma.
	373.	Model for BRCA1 carcinogenesis in which genomic instability leads to the initiation of cancerous cell clones (review)
	374.	The proliferation of MCF-7 cells induced by E2 was significantly inhibited by PD98059, a specific ERK inhibitor, or by dominant negative ERK2 expression and by expression of wt BRCA1 (but not mutant BRCA1).
	375.	BRCA1 truncating mutations do not account for the linkage evidence on chromosome 17 observed hereditary prostate cancer families
	376.	The G2/M checkpoint-mediated arrest of the cell cycle is critical for the prevention of both apoptosis and the accumulation of cells with rereplicated DNA, because the loss of ATR, BRCA1, or FANCA promotes apoptosis and suppresses the accumulation.
	377.	low mRNA and protein expression in the BRCA1/BRCA2 and XRCC5 genes occur in lung adenocarcinoma and squamous cell carcinoma, respectively, and promoter hypermethylation is the predominant mechanism in deregulation of these genes
	378.	BRCA1 C-terminal domain is implicated in recombination control.
	379.	BRCA1/BARD1 catalyses the formation of multiple polyubiquitin chains on itself and potentiates the E3 ubiquitin ligase activity of the BRCA1/BARD1 complex >20-fold
	380.	Average cumulative risks in BRCA1-mutation carriers by age 70 years were 65% (95% confidence interval 44%-78%) for breast cancer and 39% (18%-54%) for ovarian cancer
	381.	pathological splice mutations outside the invariant AG/GT splice sites of exon 5 increase alternative transcript levels in the 5' end of the gene
	382.	Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase.
	383.	Microsatellite instability (MSI) of BRCA1 gene could be used as a molecular marker in early phases of sporadic gastric cancer in Chinese population.
	384.	BRCA1 phosphorylation by Aurora-A plays a role in G(2) to M transition of cell cycle
	385.	Large rearrangements of exons 13 and 22 have been identified in the BRCA1 gene in German families with a strong history of breast and ovarian cancer.
	386.	p300 Modulates the BRCA1 inhibition of estrogen receptor activity.
	387.	Activation of the aromatic hydrocarbon receptor pathway is not sufficient for transcriptional repression of BRCA-1: requirements for metabolism of benzo[a]pyrene to 7r,8t-dihydroxy-9t,10-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene.
	388.	Findings demonstrate that a substantial proportion of Turkish ovarian cancer patients, both with and without a family history, carry BRCA1 mutations.
	389.	p65/RelA, one of the two subunits of the transcription factor NF-kappaB, binds to the BRCA1 protein.
	390.	Recurrent BRCA1 mutations have no role in predisposition to prostate cancer in Finland.
	391.	-FHL2 interaction may be involved in transcriptional regulation and play a significant role in cancer cell growth
	392.	Review. Decreased BRCA1 expression occurs frequently in sporadic tumors, and the magnitude of this decrease has been correlated with increased disease progression.
	393.	BRCA1 COOH-terminal (BRCT) domains have a role in DNA damage
	394.	Women with a BRCA1 mutation are at higher risk for the induction of mutations and secondary cancers by standard therapies.
	395.	functional link between recombination control and breast cancer predisposition in carriers of Chk2 and BRCA1 germ line mutations
	396.	Data show that the BRCA1 C-terminal region can negatively modulate phosphorylation levels of the RNA polymerase II carboxy-terminal domain by the Cdk-activating kinase (CAK) in vitro.
	397.	Taken together, these data suggest a direct link between the BRCA1 185delAG mutation and alterations in the caspase-mediated apoptotic pathway.
	398.	The loss of the wild-type allele inherited from the unaffected parent (LOH), commonly observed in the primary breast and ovarian tumors in these susceptible women, represents the event that initiates the tumorigenesis process.
	399.	The 1708E variant was associated with the disruption of different cellular functions of BRCA1.
	400.	BRCA1 and BARD1 can ubiquitinate phosphorylated RNA polymerase II
	401.	plays similar role in both male and female breast carcinoma; loss of this protein associated with poor prognosis
	402.	Specific chemosensitivity profile of BRCA1-defective breast cancer cells in vitro, which is dependent on BRCA1 protein expression.
	403.	BRCA1 protein has a significant role in both sporadic and hereditary breast cancers.
	404.	Founder mutations are present within the Scottish/Northern Irish population and have implications for the organisation of molecular screening services.
	405.	an exogenous BRCA1 gene strongly inhibited telomerase enzymatic activity in human prostate and breast cancer cell lines
	406.	BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function
	407.	Excludes the frequent occurrence of large genomic alterations in the BRCA1 gene in Finland amd concludes that there are still unknown breast cancer susceptibility gene(s) that are responsible for breast cancer predisposition.
	408.	the multiple BRCA1 functions require a novel hGCN5/TRRAP histone acetyltransferase complex subclass
	409.	BRCA1 affects lipogenesis through binding to P-ACCA, suggesting a new mechanism by which BRCA1 may exert a tumor suppressor function
	410.	PCR assay was used for determining the prevalence of five BRCA1 rearrangement mutations that previously had been reported to occur in unrelated patients.
	411.	The BRCA1-IRIS is a novel product of the breast cancer susceptibility locus BRCA1.
	412.	The BRCA1-IRIS is a novel product of the breast cancer susceptibility locus BRCA1.
	413.	Purified RINGs, like BRCA1, self-assemble into supramolecular structures. Self-assembly controls & amplifies E3 ubiquitin conjugation activity of BARD1:BRCA1. Forced oligomerization partially restores assembly & E3 activity of oncogenic mutant BRCA1.
	414.	focus is transcriptional target genes and how BRCA1 could be linked to DNA repair and cell cycle regulation in breast cancer
	415.	These findings reveal a novel complex between BRCA1, LMO4, and CtIP and indicate a role for LMO4 as a repressor of BRCA1 activity in breast tissue.
	416.	BRCA1 mutation is associated with serous carcinoma of ovary
	417.	interaction with claspin regulates cell proliferation
	418.	Cells from carriers of mutations in one allele of the BRCA1 or BRCA2 genes have no gross defects in their ability to rejoin radiation-induced DNA breaks.
	419.	Cell cycle arrest after ionizing radiation (IR) of breast carcinoma cells may involve repression of the gene for polo-like kinase 1 by BRCA1.
	420.	BRCA1-dependent DNA repair in response to a DNA damaging agent is suppressed by TGFbeta1/Smad3
	421.	coordinating role of BRCA1 in gene expression may ensure the appropriate quantity and quality of the mature transcripts for certain breast and ovarian cancer-related genes, as well as the genetic integrity of the breast and ovary tissues
	422.	transcriptionally regulates genes involved in breast tumorigenesis
	423.	JunB potentiates function of BRCA1 activation domain 1 (AD1) through a coiled-coil-mediated interaction
	424.	Both TopBP1 and BRCA1 specifically regulate the G(2)-M checkpoint, partially compensating each function.
	425.	BRCA1-BARD1 complexes act as an adaptor to mediate phosphorylation of p53, influencing G(1)/S cell cycle progression after DNA damage.
	426.	results reveal unique characteristics of BRCA1/2 mutation, genotype-phenotype & prognosis in moderate- & low-risk individuals of Greek ancestry; breast cancer due to mutations in BRCA1 & BRCA2 appears to be a heterogeneous syndrome in Greek population
	427.	BRCA1 interacts with human papillomavirus oncoproteins.
	428.	Distribution of BRCA1 and BRCA2 mutations in a cohort of young women with breast cancer compared as a function with race.
	429.	these data implicate BRCA1 and the H2AX kinase in replication of facultative heterochromatin on the inactive X chromosome
	430.	The frequency of the hereditary ovarian carcinoma is attributed to BRCA1 gene mutation.
	431.	results demonstrate that DNA damage-induced ATM activation requires a coordinated assembly of BRCA1, BAAT1, and ATM
	432.	study proposes a new mechanism by which estrogen receptors and retinoic acid receptors regulate BRCA1-mediated DNA repair by means of CBP
	433.	while the Norwegian haplotype including 1135insA represents an ancient Norwegian mutation, the same mutation has occurred independently in the other populations examined
	434.	Carrying a BRCA1 or BRCA2 mutation is not a risk factor for spontaneous abortions but may be associated with frequency of induced abortion.
	435.	A novel signaling pathway links BRCA1-IRIS to cellular proliferation through c-Jun/AP1 nuclear pathway; finally, this culminates in the increased expression of the cyclin D1 gene.
	436.	In present study one Ex20insC mutations of BRCA1 gene was identified in women with breast cancer.
	437.	Cav-1 induced the cytoplasmic sequestration of BRCA1.
	438.	no evidence for poorer short-term survival in BRCA1 mutation carriers compared to non-carriers with breast cancer
	439.	found a novel BRCA1 mutation in a family of Palestinian origin with a history highly compatible with BRCA1 phenotype
	440.	BRCA1 is a ubiquitin ligase expressed in a wide range of tissues.
	441.	These data suggests that, at least part of the biological actions of insulin-like growth factor-I in mammary gland cells may be mediated through BRCA1.
	442.	Regulation of the BRCA1 promoter in ovarian cells.
	443.	the ubiquitin-interacting motif containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response
	444.	BRCA1 is involved in regulating cellular immortalization through the modulation of c-Myc on the hTERT promoter
	445.	BRCA1 has roles in DNA damage repair and cellular responses that link development and cancer [review]
	446.	analysis of BRCA1 missense mutations in breast-ovarian chancer families
	447.	germline 185delAG BRCA1 mutations are associated with an inherited predisposition to breast and ovarian carcinoma in non-Jewish Americans of Spanish ancestry
	448.	BRCA1 expression was positively-correlated with Bcl-2 expression, but no relationship between BRCA1 expression and Bax or p53 expression could be established in breast carcinomas.
	449.	germline BRCA1 mutations are not associated with an increased risk for lymphoid malignancies
	450.	BRCA1 and BRCA2 mutations may have a role in progression of ovarian cancer
	451.	mutagenic sensitivity in blood of women carrying brca1 mutation
	452.	Patients with bilateral breast cancer having BRCA1 mutations are significantly younger than non-carriers.
	453.	BRCA1 protects cells against oxidative stress.
	454.	data indicate that the cell cycle-dependent pattern of BRCA1 tumor suppressor expression is determined in part by ubiquitin-dependent proteasomal degradation
	455.	CDK2-BRCA1-Nucleophosmin pathway coordinately functions in cell growth and tumor progression pathways
	456.	results lead to conclusion that, in colon epithelial cells, the expression level of the K18 gene is kept in check by a repression mechanism involving CtBP1, HDAC & BRCA1; mechanism is altered in SW613-S colon carcinoma cells that overexpress the K18 gene
	457.	BRCA1 participates in DNA decatenation and in the maintenance of genomic stability.
	458.	Germline mutations within breast cancer susceptibility genes, such as BRCA1 and BRCA2 are associated with a major risk of breast cancer during lifetime.
	459.	Self-assembly has profound consequences for the processive formation of polyubiquitin (poly-Ub) chains in ubiquitination reactions directed by the breast and ovarian cancer tumor susceptibility protein BRCA1.
	460.	down regulation of BRCA1 protein and loss of heterozygosity correlated with the clinicopathological parameters in the pathogenesis of sporadic breast cancer women in Chennai (South India).
	461.	provide evidence that gross rearrangements within the breast and ovarian cancer susceptibility protein 1(BRCA1) gene locus may be as frequent as 3% in primarily mutation-negative tested high-risk familial breast and ovarian cancer of German ancestry
	462.	BRCA1 modulates protein synthesis via its interaction with PABP, providing a novel mechanism by which BRCA1 may exert its tumor suppressor function
	463.	Describes genetic screening program for breast neoplasms based on BRCA1 mutations.
	464.	BRCA1 could act as a CTD kinase inhibitor and, as such, contribute to the regulation of p21 gene expression
	465.	infrequent presence of germline BRCA1 mutations in our study agree with the idea that a great proportion of moderate risk breast cancer population could be due to the susceptibility genes distinct from BRCA1
	466.	The ITGB3_Leu33Pro polymorphism may potentially increase the risk of ovarian cancer in Polish women with an inherited BRCA1 mutation.
	467.	The ubiquitin-proteasome degradation pathway plays a significant role in the coordinated protein stability of BRCA1 and its partner BARD1 in ovarian granulosa cells.
	468.	Epimutation is an unlikely explanation for hereditary breast cancer in women who test negative for BRCA mutations.
	469.	analysis of BRCA1 gene was carried out in 56 Slovak breast/ovarian cancer families; 4 mutations accounted for 61.3% of all detected pathogenic mutations in BRCA1, and there also was a large scale of low frequency disease causing mutations
	470.	These findings implicate Akt in upstream events leading to BRCA1 nuclear localization and function.
	471.	common polymorphisms in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are not shown to increase breast cancer risk
	472.	presence of BRCA1 and BRCA2 rearrangements among Asian patients with early onset or familial history of breast or ovarian cancer
	473.	among carriers of BRCA1 or BRCA2 mutations, the cumulative lifetime risk of developing breast cancer is 50-60% and the equivalent risk of ovarian cancer is 20-40% in Australian women
	474.	BRCA1 has a role as as a ZBRK1 co-repressor
	475.	BRCA1 Ser-1387 site phosphorylation is required for S-phase DNA damage checkpoint; Ser-1423 phosphorylation is specifically required for the G2/M checkpoint.
	476.	BRCA1 directed ligation of ubiquitin occurs during S-phase
	477.	The phosphorylated serine 990 and phenylalanine 993 of BACH1 anchor the binding to BRCA1 through specific interactions with a surface cleft at the junction of the two BRCT repeats.
	478.	the 4153delA BRCA1 mutation confers a comparatively low risk of breast cancer
	479.	BRCA1/2 mutation screening should be considered for all women diagnosed before age 41.
	480.	Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families.
	481.	Phosphorylated BRCA1 is predominantly located in the nucleus and mitochondria.
	482.	A novel pathogenic germline mutation, BRCA1 c.5445G>A, was found in a screening of sporadic Korean breast cancer patients, along with 3 new polymorphic and 6 new intronic variants of unknown clinical significance.
	483.	women with a BRCA1 protein mutation and 4 or more children had a 38% decrease in breast cancer risk compared to nulliparous women, while among BRCA2 protein carriers, increasing parity was associated with an increased risk of breast cancer
	484.	BRCA1 regulates the activity of progesterone, a major hormone of pregnancy that may also participate in mammary carcinogenesis.
	485.	BRCA1 modulates aromatase expression in ovarian granulosa cells and primary preadipocytes; transient knockdown of BRCA1 enhances aromatase expression in both ovarian granulosa cells and primary preadipocytes
	486.	Data suggest that the microcephaly observed in patients with MCPH1 deficiencies is due to disruption of the ATR-BRCA1-Chk1 signaling pathway that is also disrupted in Seckel syndrome patients.
	487.	RING and BRCT domains together target BRCA1 to large focal assemblies at DNA double-stranded breaks
	488.	phylogenetic analysis of BRCA1 reveals that selection is acting most strongly on the role of BRCA1 in DNA repair
	489.	A founder mutation of BRCA1 identified in the Chinese population is a recurrent BRCA1 germline mutation in ovarian cancer.
	490.	A low frequency of recurrent BRCA1 mutations has been found in breast and ovarian cancers in Spain.
	491.	exogenous nuclease-defective FEN-1 causes repeat instability and aberrant DNA repair. Inefficient flap processing blocks the formation of Rad51/BRCA1 complexes but invokes repair by other pathways
	492.	The interindividual variability in ovarian cancer penetrance in BRCA1 carriers may be explained by a common BRCA1 Gly1038 wild-type allele, given its high frequency (0.27).
	493.	BRCA1 function contributes to maintenance of the proper heterochromatin superstructure on inactivated X chromosomes.
	494.	2 cases of monoallelic BRCA1 expression were detected, one of which was only revealed by allele-specific expression analysis.
	495.	results suggest the presence of one or more genes on chromosome 5q33-34 that modify breast cancer risk in BRCA1 mutation carriers
	496.	analysis of the cancer-causing BRCA1-BRCT missense mutation and models of the protein
	497.	cell cycle differences in DNA damage-induced BRCA1 phosphorylation affect its subcellular localization
	498.	Geographical clustering suggest a founder effect for particular BRCA1 mutations and gene carrier detection in French families with breast and ovarian cancer.
	499.	BRCA1 mutations could not be detected among unrelated non-Ashkenazi-Jewish high risk families in Israel.
	500.	we show a requirement for Rad17 and Hus1 to induce G(2) arrest as well as Vpr-induced phosphorylation of histone 2A variant X (H2AX) and formation of nuclear foci containing H2AX and breast cancer susceptibility protein 1
	501.	mutations in BRCA1 were associated with a sex ratio skewed against male births.
	502.	single point mutations that disrupted the amino-terminal RING domain of BRCA1 caused significant suppression of cell growth
	503.	The c.3862delG (3981delG) frameshift mutation (p.E1288fsX1306) is a novel gene alteration.
	504.	BRCA1 contains at least two leucine-dependent nuclear export sequences
	505.	BRCA1 is involved in secretion of certain paracrine/autocrine factors that induce mammary epithelial cell differentiation in response to extracellular matrix signals
	506.	Weight loss in early adult life (age 18 to 30) protects against early-onset BRCA1 associated breast cancers.
	507.	Mutational analysis of BRCA1/2 genes in 151 high-risk patients characterized the spectrum of gene alterations and demonstrated the dominant role of the BRCA1 c.5266dupC allele in hereditary breast and ovarian cancer.
	508.	BRCA1 could play a role in telomere protection.
	509.	xenobiotic (TCDD) treatments of breast cancer cells containing reduced levels of BRCA1 cause the transcription factor ARNT to become unstable
	510.	Women who had developed breast cancer under the age of 40 and who were identified as BRCA1 or BRCA2 mutation carriers experienced devastation, loneliness and isolation.
	511.	These results suggest that heregulin-mediated growth inhibition in HER4-postive breast cancer cells requires BRCA1.
	512.	distinct single nucleotide changes in the BRCT domain of BRCA1 affect binding of this protein to the tumor suppressor p53
	513.	Data show that reduced BRCA1 expression owing to promoter hypermethylation is frequent in therapy-related acute myeloid leukemia and that this could contribute to secondary leukaemogenesis.
	514.	The obtained results indicate that alteration in the RAD51 region may contribute to the disturbances of DNA repair involving RAD51 and BRCA1 and thus enhance the risk of breast cancer development.
	515.	by combining multiple approaches to assess the genetics and epigenetics of a large series of BRCA1 primary tumors, we can conclude definitively that BRCA1 is not required for XIST RNA coating of the X chromosome
	516.	BRCA1 3857delT mutation was identified in breast cancer patients in Mexico.
	517.	Two novel mutations in BRCA1, 1584G>T and 5028delC, likely to be disease-associated, were identified in breast cancer patients in China.
	518.	germline mutations in breast and/or ovarian carcinoma patients
	519.	BRCA1 is downregulated by heregulin in the extracellular matrix in breast tumor cells
	520.	The loss of the androgen receptor expression together with the observed loss of other steroid hormone receptors in BRCA1-mutated tumors may lead to a hormone-independent growth or to anti-hormone resistant growth of these tumors.
	521.	Both nucleus and cytoplasmic BRCA1 protein staining were detected in cells using four different antibodies.
	522.	Germline mutation in BRCA1 associated with hypersensitivity to radiation
	523.	Structural determinants of BRCA1 translational regulation
	524.	The BRCA1 suppressor hypothesis: an explanation for the tissue-specific tumor development in BRCA1 patients
	525.	RAD51D polymorphism is not associated with BRCA1 or 2 genes in breast cancer.
	526.	TRAP220 complex play an important role as putative co-activator complexes in BRCA1-mediated tumor suppression.
	527.	A substantial proportion of Mongolian women with ovarian cancer or early-onset breast cancer may be due to a founder BRCA1 mutation 3252delA.
	528.	These results demonstrate a novel pathogenic mechanism whereby mutations in BRCA1, via their interaction with ER-alpha, could promote tumorigenesis through the hormonal regulation of mammary epithelial cell proliferation and impaired VEGF function
	529.	expression of the p210 BCR-ABL fusion protein leads to a down-regulation of BRCA1 protein, which is nearly undetectable in primary chronic myeloid leukemia cells
	530.	Novel germline deleterious pathogenic, protein truncating frameshift and non-sense mutations were detected in exon 2, exon 11 of BRCA1 in breast-ovarian cancer families.
	531.	Plays a role in breast cancer in conjunction with p53.
	532.	Brca1 and Chk1 are regulated by MCPH1 during DNA damage in tumor cell lines
	533.	We report here the characterization of two novel BRCA1 mutations identified in families seen in our cancer risk evaluation clinic that alter splice donor sites of BRCA1
	534.	We wanted to clarify the proportion of breast cancer attributable to mutations in BRCA1 in an unselected breast cancer population from the Stockholm region
	535.	relation of gene to various cancers, especially breast and ovarian cancers
	536.	role in heat shock response
	537.	Our results suggest that there is a field effect of early genetic events preceding morphologic changes in the mammary glands of BRCA mutation carriers.
	538.	There may be a genetic predisposition toward pancreatic neoplasms via BRCA1.
	539.	ASPM may be involved in mitotic spindle function, possibly, through regulation of BRCA1
	540.	BRCA1 promotes accurate DSB repair during various phases of the cell cycle [review]
	541.	Individuals receiving BRCA1 test results who learn that they are not carriers of a deleterious mutation for breast or ovasrian cancer may experience psychologic benefits.
	542.	Normal amounts of BRCA1 function in hypoxia to regulate HIF-1alpha stability, probably by interacting with HIF-1alpha, leading to reduced levels of VEGF.
	543.	epidemiologic study of BRCA1-positive breast cancers in young women from Poland
	544.	Identification of 13 novel variants including two deleterious truncating mutations and two potentially pathogenic missense mutations on the BRCA1 and BRCA2 genes
	545.	Role for BRCA1 in modulating estrogen biosynthesis in Adipose stem cells, contributing to its tissue-specific tumor suppressor function.
	546.	The P1812A and P25T BRCA1 mutations are not likely to be founder mutations in non-Ashkenazi Jewish families with high risk of breast and ovarian cancer.
	547.	Findings show that BRCA1 mutations account for a substantial proportion of hereditary breast/ovarian cancer and early-onset breast and ovarian cancer cases in Pakistan.
	548.	Possible effects of BRCA1 transcriptional regulation on downstream targets with known roles in cell cycle control. [REVIEW]
	549.	Evidence for BRCA1 pathway dysfunction in sporadic basal-like breast cancers, and clinical significance of the basal-like phenotype for cancer genetics and treatment. [Review]
	550.	Breast cancers arising in BRCA1 and BRCA2 mutation carriers appear to have specific pathological and gene expression profiles, which show a high level of concordance. BRCA1 tumors are high-grade and negative for hormone receptors. [REVIEW]
	551.	Repressors of BRCA1 expression may facilitate the development of strategies based on disruption of these interactions to rescue BRCA1 expression in human tumors.
	552.	analysis of nonconserved residues that enforced p53 core domain binding with BRCA1-BRCT in a way similar to p53-53BP1 binding
	553.	in response to irofulven, BRCA1 contributes to the control of S and G(2)/M cell cycle arrest and is critical for repairing DNA double-strand breaks and for RAD51-dependent homologous recombination
	554.	deregulated expression of BRCA1-IRIS is likely to reduce dependence on normal physiological growth stimuli
	555.	substantial levels of aberrant methylation, in the fluid from the breasts of healthy BRCA mutation carriers
	556.	BRCA1 enzymatic activity regulates transcriptional repression, during which the ubiquitin moiety itself interferes with the assembly of basal transcription factors at the promoter.
	557.	a direct physical interaction between BRCA1 and ATRIP is required for the checkpoint function of ATR
	558.	role in regulating G2M checkpoint by activating Chk1 kinase upon DNA damage
	559.	BRCA1 protein can be evaluated by two-dimensional gene scanning and by single nucleotide polymorphism techniques.
	560.	Expression of BRCA1 and BRCA2 in different tumor cell lines with various growth status
	561.	BRCA1 selectively coactivates the p53 transcription factor towards genes that direct DNA repair and cell cycle arrest but not towards those that direct apoptosis
	562.	women aged less than 35 years with breast cancer have frequent loss of nuclear BRCA1 expression, which may be responsible for the specific tumor biology different from older women
	563.	Fifteen novel BRCA1 mutations identified in breast and ovarian cancers may be deleterious cancer predisposing mutations.
	564.	BRCA1 facilitates the ability of ATM and ATR to phosphorylate downstream substrates that directly influence cell cycle checkpoint arrest and apoptosis
	565.	study from South India, on BRCA1, BRCA2 & CHEK2 mutations in patients with a family history of breast and/or ovarian cancer and early onset breast/ovarian cancer
	566.	Heterozygosity for germ-line mutations in BRCA1 results in development of progesterone receptor A predominance.
	567.	The estrogen receptor-negative status of these cancers may reflect the cell of origin of BRCA1-related breast cancers.
	568.	the central region of BRCA1 may act as a long flexible scaffold for intermolecular interactions, thereby helping to integrate multiple signals in the DNA damage response pathway
	569.	Mutation of the BRCA1 gene is associated with Czech ovarian cancer patients
	570.	analysis of Alu element insertions within the BRCA1/2 coding sequences
	571.	The data suggest applying an increased level of clinical alertness to those with defects in BRCA-related pathways.
	572.	BRCA1 transactivates the cyclin-dependent kinase inhibitor p27(Kip1). This may be a mechanism for BRCA1- induced growth inhibition.
	573.	eight of the most common reported missense mutations in BRCA1 and BRCA2 occurring in patients tested for hereditary risk of breast and ovarian cancers
	574.	Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.
	575.	HMGA1 proteins are involved in transcriptional regulation of the BRCA1 gene, and their overexpression may have a role in BRCA1 downregulation observed in aggressive mammary carcinomas
	576.	AS common deleterious frameshift mutations in unrelated Malay breast cancer patients with a common haplotype indicates a founder mutation in breast cancer patients of Malay ethnic background.
	577.	the BRCT region of BRCA1 has a role in breast neoplasms
	578.	BRCA1 downregulation in melanoma cells did not make them more aggressive and could lead to new therapeutic strategies for this tumor, which is so difficult to control once metastasized.
	579.	Our findings identify a novel apoptosis inhibitory function of BARD1 and suggest that nuclear retention of BRCA1-BARD1 complexes contributes to both DNA repair and cell survival.
	580.	Carboplatin caused slightly less damage at equimolar concentrations in cells than in cell-free BRCA1 fragment.
	581.	BRCA1 supports XIST localization, loss of BRCA1 in female cells may lead to Xi perturbation and destabilization of its silenced state.
	582.	Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy.
	583.	BRCA1 splice variants exhibit overlapping and distinct transcriptional transactivation activities in a non-tumorigenic mammary epithelial cell line
	584.	interaction with processive RNA pol II in undamaged cells places BRCA1 in position to link late events in transcription with repair processes in eukaryotic cells
	585.	M1628T had the same transcriptional activity as wild-type BRCA1 but V1804D and the empty vector control showed a 60% reduction. The latter is deleterious, the former is not.
	586.	germline mutations predisposing to breast and ovarian cancers in Upper Silesia population
	587.	mutation sites of BRCA1 gene in Chinese patients with breast cancer
	588.	the N-terminal repeat harbors a conserved BRCT phosphoserine-binding pocket, while the interface between the repeats forms a hydrophobic groove that recognizes the PHE; the structural integrity of both binding sites is essential for peptide recognition.
	589.	the X-ray crystal structure at a resolution of 1.85 A of the BRCA1 tandem BRCT domains in complex with a phosphorylated peptide representing the minimal interacting region of the DEAH-box helicase BACH1.
	590.	BRCA1 can up-regulate its targeted genes through protein-protein interactions and provide a novel mechanism by which BRCA1 participates in transcriptional regulation.
	591.	first evidence of a BRCA1 mutation specific to Native North Americans.
	592.	Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination.
	593.	Role of ERK1/2 in BRCA1-induced apoptosis
	594.	recent findings regarding BRCA1 in breast cancer - review
	595.	BRCA1 is regulated by Ets-2 and components of mammalian SWI/SNF
	596.	Inhibition of BRCA1 via overexpressing the RHA fragment coincides with a reduction in PARP-1 protein expression, suggesting a possible mechanism for BRCA1 in the maintenance of genomic integrity.
	597.	C-terminal NMR structure of BRCA1
	598.	BRCA1 and BRCA2 mutations in Russian familial breast cancer
	599.	BRCA1 exon 11 was studied by the protein truncation test, & BRCA1 exons 2, 3, 5, 13 & 20 by SSCP genomic DNA from early-onset breast cancer patients amplified by PCR. 3 frameshifts and a 12 bp duplication polymorphism were found.
	600.	the BRCA1 promoter is positively regulated by 53BP1
	601.	Cancer-associated mutations in the BRCT domain of BRCA1 causes its cytoplasmic mislocalization.
	602.	BRCA1 may have a role in pancreatic carcinogenesis of noninherited tumors
	603.	BRCA1 upregulates DDB2 or XPC, with some evidence suggesting that p53 is involved in their regulation.
	604.	A review of the genetics and expression of BRCA1, and its role in DNA damage and repair in its normal state.
	605.	BRCA1 mutations and polymorphisms were evaluated in a hospital-based consecutive series of breast cancer patients in Italy.
	606.	Prophylactic salpingo-oophorectomies from women with BRCA mutations (BRCA+) have identified the tube as a frequent site of early pelvic serous carcinoma (tubal intraepithelial carcinoma [TIC]).
	607.	Low expression of BRCA1 was associated with colorectal cancer
	608.	Our comparison of binding by wild-type and mutant domains indicates the sequence specificity of BRCA1-p53 interaction.
	609.	BRCA1 mutation is common (9%) among unselected young breast cancer patients undergoing BCT.
	610.	Testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing predicts prevalence of breast and ovarian cancer.
	611.	analysis of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC
	612.	BRCA1 mutations appear to account for a lower proportion of breast cancer patients at increased risk of harboring such mutations in Northern India
	613.	BRCA1 and BRCA2 mutations may be more frequent in general populations than previously thought and may be associated with various types of cancers.
	614.	Our findings suggest that in Central Sudan BRCA1/2 represent an important etiological factor of breast cancer in males and young women less exposed to pregnancy and lactation.
	615.	the genomic instability observed in normal cells from BRCA1 and BRCA2 mutation carriers is associated with a down-regulation of nuclear BRCA1 protein accumulation in dot like structures
	616.	identification of receptor-associated protein 80 (RAP80) as a BRCA1-interacting protein in humans
	617.	data support a model wherein ubiquitin chains at DNA damage sites are used as a targeting mechanism by specific BRCA1 complexes; RAP80 may represent a new class of DNA repair proteins that uses tandem UIM domains as part of its recruitment to DSBs
	618.	The RAP80-Abraxas complex may help recruit BRCA1 to DNA damage sites in part through recognition of ubiquitinated proteins
	619.	BRCA1 activates a G2-M cell cycle checkpoint following 6-thioguanine-induced DNA mismatch damage
	620.	Three novel disease-causing mutations identified in Chinese early onset breast cancer patients.
	621.	A putative splice site mutation (IVS6-2delA) in BRCA1 identified in a family attending a familial cancer center demonstrates a sequence variation that prevents normal splicing of the BRCA1 transcript and conveys an increased risk of breast cancer.
	622.	None of the BRCA 1 or 2 mutations were detected in the ovarian neoplasm patient group.
	623.	Three additional mutations are reported.
	624.	complex with Nmi and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene promoter activity in breast cancer
	625.	role in differentiation (review)
	626.	BRCA1-associated breast cancers involve MYC in disease progression
	627.	examined the fidelity of double-strand break repair in four lymphoblastoid cell lines with BRCA1 missense mutations
	628.	BRCA1/BARD1 heterodimer formation is important for optimal nuclear targeting of BARD1 and its role in DNA repair and cell survival.
	629.	inactivation of the FANC-BRCA pathway is relatively common in solid tumors and may be related to tobacco and alcohol exposure
	630.	cytoplasmic relocalization of BRCA1 protein is a mechanism whereby BRCA1 function is regulated in response to DNA damage
	631.	Results identify factors involved in regulating BRCA1 transcription.
	632.	Known hereditary mutations in the BRCA gene can efficiently be analyzed in serum samples collected and stored over several decades
	633.	Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations
	634.	BRCA1 has two evolutionarily conserved noncoding regulatory sequences (CNS) in intron 2, 5 kb downstream of the core BRCA1 promoter.
	635.	TP53 mutations in BRCA1 mutation carriers do not appear to have a role in progression of ovarian neoplasms
	636.	identifies high expression of FOXA1 in breast cancer cell lines and tissues; role for BRCA1 in the regulation of p27(Kip1) transcription and a possible interaction with BRCA1 discovered
	637.	Salpingo-oophorectomy, despite being quite a radical preventive method, might offer protection for the carriers against life-threatening silently-developing cancer.
	638.	This review will survey the known ubiquitination substrates of BRCA1 and suggest how these reactions may influence the genomic stability and proliferation of breast cells.
	639.	The effects of BRCA1 intron variants on mRNA splicing and expression.
	640.	the whole BRCA1 protein interacts with ACCA when phosphorylated on Ser1263.
	641.	No BRCA1/2 genomic rearrangements found in high-risk French-Canadian breast/ovarian cancer families.
	642.	Results suggest that, besides its role in maintaining genomic stability, BRCA1 directly regulates the expression of angiogenic factors to modulate the tumor microenvironment.
	643.	The objective in this study was to determine the frequency of large genomic rearrangements in BRCA1 and BRCA2 in a large group of Danish families with increased risk of breast and ovarian cancer.
	644.	BRCA1 can regulate the functions of its substrates through nonproteasomal pathways that do not involve substrate degradation.
	645.	BRCA1 is a tumor suppressor gene and is known to be responsible for breast cancer and breast-ovarian cancers running in families.
	646.	Tumor cells having disruptions in BRCA1/2 network genes and TP53 together are more sensitive to cisplatin than cells with either disruption alone.
	647.	Selective inhibition of aromatase expression by BRCA1 binding to the I.3/II tumorigenic promoter region may be an important protective mechanism against breast cancer development.
	648.	These findings implicate BRCA1 in replication-linked maintenance of centric/pericentric heterochromatin and suggest a novel means whereby BRCA1 loss may contribute to genomic instability and cancer.
	649.	We show that BRCA1, signal transducer and activator of transcription (STAT)-1, and STAT2 are all required for the induction of IRF-7 following stimulation with IFN-gamma.
	650.	BRCA1 was present in brain tissue of all cases of Alzheimer disease.
	651.	roles for BRCA1 in both mammary gland development and in tumor suppression against mutagen-induced mammary gland neoplasia
	652.	The amino terminal RING finger motif and the granin consensus sequence are conserved between human, canine, and murine BRCA1 genes.
	653.	Ab-1 is the most reliable antibody for detecting BRCA1 expression in formalin-fixed paraffin-embedded tissues
	654.	BRCA1 is rarely expressed in breast cancer of Kuwaiti patients and correlates with parameters of poor prognosis
	655.	solution properties of the highly conserved C terminus of BRCA1, consisting of a tandem repeat of the BRCT domain (BRCT-tan), that plays a critical role in BRCA1-mediated tumor suppression
	656.	Transcriptional activity depends on p53 and this protein: inability of the mutant suppressor to repress IGF-IR expression result in increased IGF-IR levels and IGF binding.
	657.	BRCA1 functions in the signaling of DNA damage and its repair by homologous recombination, nucleotide-excision repair and possibly non-homologous end-joining. (review)
	658.	The occurrence of changes in BRCA1 gene mutation in women with familial ovarian cancer is more frequent than with familial breast neoplasms.
	659.	Mutation in BRCA1 cause a frameshift and generates a premature stop codon at 903.
	660.	specifically enhances the global genomic repair pathway, independent of p53, and can induce p53-independent expression of the nucleotide excision repair genes XPC, DDB2, and GADD45
	661.	a partial BRCA1 : estrogen receptor-alpha three-dimensional structure is proposed
	662.	A mutation in a pedigree of an Asian/Filipino family, with breast cancer.
	663.	BRCA1 gene polymorphism increase the risk for breast neoplasms in Jordanian women.
	664.	Two novel BRCA1 splice variants, 331+1G>T and 4476+2T>C in breast cancer patients in India.
	665.	Germline mutations in BRCA1 account for breast cancer predisposition in the majority of families.
	666.	Following exposure to ionizing radiation (IR), the BRCA1-c-Abl complex is disrupted in an ATM-dependent manner, which correlates temporally with ATM-dependent phosphorylation of BRCA1 and ATM-dependent enhancement of the tyrosine kinase activity of c-Abl
	667.	founder mutation in a highly homogeneous population from southern Italy
	668.	germline mutation analysis by RNA-based sequencing

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[Top][Help]HIV-1 protein interactions

Protein	Interaction
1. Vpr	HIV-1 Vpr stimulates the focus formation of Rad51 and BRCA1, which are involved in repair of DNA double-strand breaks (DSBs) by homologous recombination (HR)	PubMed
2.	HIV-1 Vpr expression in HeLa cells induces formation of nuclear foci containing H2AFX and BRCA1	PubMed
3.	HIV-1 Vpr induces phosphorylation of BRCA1 at serine 1423 in an ATR-dependent manner	PubMed

Go to the HIV-1, Human Protein Interaction Database

[Top][Help]Interactions

Description ..........
Product	Interactant	Other Gene	Complex	Source	Pubs
ETS2 (Ets-2) interacts with BRCA1 promoter. This interaction was modeled on a demonstrated interaction between ETS2 from an unspecified species and BRCA1 promoter from an unspecified species.
NC_000017.9	NP_005230.1	ETS2		BIND	PubMed

NP_009225.1	NP_942131.1	ACACA		HPRD	PubMed

NP_009225.1	NP_000035.2	AR		HPRD	PubMed

NP_009225.1	NP_005162.1	ATF1		HPRD	PubMed

NP_009225.1	NP_001177.1	BACH1		HPRD	PubMed

NP_009225.1	NP_004647.1	BAP1		HPRD	PubMed

NP_009225.1	BRCA1 associated ring domain 1	BARD1		HPRD	PubMed

NP_009225.1	BRCA1 associated ring domain 1	BARD1		HPRD	PubMed

NP_009225.1	AAC24200.1	BRAP		HPRD	PubMed

NP_009225.1	NP_000050.1	BRCA2		HPRD	PubMed

NP_009225.1	NP_000050.1	BRCA2		HPRD	PubMed

NP_009225.1	NP_114432.1	BRIP1		HPRD	PubMed

NP_009225.1	Cyclin A2	CCNA2		HPRD	PubMed

NP_009225.1	NP_001228.1	CCNA2		HPRD	PubMed

NP_009225.1	NP_114172.1	CCNB1		HPRD	PubMed

NP_009225.1	Cyclin D1	CCND1		HPRD	PubMed

NP_009225.1	NP_001777.1	CDC2		HPRD	PubMed

NP_009225.1	NP_000066.1	CDK4		HPRD	PubMed

NP_009225.1	CHK2	CHEK2		HPRD	PubMed

NP_009225.1	NP_071394.2	CLSPN		HPRD	PubMed

NP_009225.1	NP_056271.2	COBRA1		HPRD	PubMed

NP_009225.1	NP_004371.1	CREBBP		HPRD	PubMed
CBP interacts with BRCA1. This interaction was modelled on a demonstrated interaction between human BRCA1 and mouse CBP.
NP_009225.1	NP_004371.1	CREBBP		BIND	PubMed

NP_009225.1	NP_001886.1	CSNK2A1		HPRD	PubMed

NP_009225.1	NP_001886.1	CSNK2A1		HPRD	PubMed

NP_009225.1	CTBP1	CTBP1		HPRD	PubMed

NP_009225.1	NP_001348.1	DHX9		HPRD	PubMed

NP_009225.1	NP_001348.1	DHX9		HPRD	PubMed

NP_009225.1	NP_005216.1	E2F1		HPRD	PubMed

NP_009225.1	NP_001941.2	E2F4		HPRD	PubMed

NP_009225.1	NP_005220.1	ELK1		HPRD	PubMed

NP_009225.1	E1A binding protein p300	EP300		HPRD	PubMed
p300 interacts with BRCA1.
NP_009225.1	NP_001420.1	EP300		BIND	PubMed

NP_009225.1	NP_000116.1	ESR1		HPRD	PubMed

NP_009225.1	NP_000116.1	ESR1		HPRD	PubMed

NP_009225.1	NP_000126.1	FANCA		HPRD	PubMed

NP_009225.1	Fanconi anemia, complementation group D2	FANCD2		HPRD	PubMed

NP_009225.1	NP_001447.1	FLNA		HPRD	PubMed

NP_009225.1	Histone deacetylase 1	HDAC1		HPRD	PubMed

NP_009225.1	Histone deacetylase 2	HDAC2		HPRD	PubMed

NP_009225.1	NP_002218.1	JAK1		HPRD	PubMed

NP_009225.1	NP_004963.1	JAK2		HPRD	PubMed

NP_009225.1	NP_002219.1	JUN		HPRD	PubMed

NP_009225.1	NP_002220.1	JUNB		HPRD	PubMed

NP_009225.1	NP_005345.2	JUND		HPRD	PubMed

NP_009225.1	NP_002257.1	KPNA2		HPRD	PubMed

NP_009225.1	NP_006760.1	LMO4		HPRD	PubMed
BRCA1 interacts with MEKK3.
NP_009225.1	NP_002392.2	MAP3K3		BIND	PubMed

NP_009225.1	NP_055456.1	MDC1		HPRD	PubMed
BRCA1 interacts with TRAP220.
NP_009225.1	NP_004765.2	MED1		BIND	PubMed

NP_009225.1	NP_004255.2	MED21		HPRD	PubMed

NP_009225.1	NP_000240.1	MLH1		HPRD	PubMed

NP_009225.1	MSH2	MSH2		HPRD	PubMed

NP_009225.1	MSH6	MSH6		HPRD	PubMed

NP_009225.1	NP_000170.1	MSH6		HPRD	PubMed

NP_009225.1	NP_002458.1	MYC		HPRD	PubMed

NP_009225.1	Nibrin	NBN		HPRD	PubMed

NP_009225.1	NFKB1	NFKB1		HPRD	PubMed

NP_009225.1	NP_002496.1	NFYA		HPRD	PubMed

NP_009225.1	N-Myc interactor	NMI		HPRD	PubMed

NP_009225.1	NP_000928.1	POLR2A		HPRD	PubMed

NP_009225.1	NP_000928.1	POLR2A		HPRD	PubMed

NP_009225.1	NP_000928.1	POLR2A		HPRD	PubMed

NP_009225.1	NP_005025.1	POLR2K		HPRD	PubMed

NP_009225.1	NP_005723.2	RAD50		HPRD	PubMed

NP_009225.1	NP_002866.2	RAD51		HPRD	PubMed

NP_009225.1	NP_002866.2	RAD51		HPRD	PubMed

NP_009225.1	NP_000312.1	RB1		HPRD	PubMed

NP_009225.1	NP_005601.1	RBBP4		HPRD	PubMed

NP_009225.1	NP_002884.1	RBBP7		HPRD	PubMed

NP_009225.1	CTIP	RBBP8		HPRD	PubMed

NP_009225.1	CTIP	RBBP8		HPRD	PubMed

NP_009225.1	NFKB3	RELA		HPRD	PubMed

NP_009225.1	NP_002904.3	RFC1		HPRD	PubMed

NP_009225.1	NP_003063.2	SMARCA4		HPRD	PubMed

NP_009225.1	NP_006297.2	SMC1A		HPRD	PubMed

NP_009225.1	NP_612482.2	SP1		HPRD	PubMed

NP_009225.1	NP_009330.1	STAT1		HPRD	PubMed

NP_009225.1	NP_644805.1	STAT3		HPRD	PubMed

NP_009225.1	STAT5A	STAT5A		HPRD	PubMed

NP_009225.1	p53	TP53		HPRD	PubMed

NP_009225.1	p53	TP53		HPRD	PubMed

NP_009225.1	NP_001061.1	TUBG1		HPRD	PubMed

NP_009225.1	NP_871615.1	UBE2D3		HPRD	PubMed

NP_009225.1	Ubiquitin conjugating enzyme E2L3	UBE2L3		HPRD	PubMed

NP_009225.1	Upstream stimulatory factor 2	USF2		HPRD	PubMed

NP_009225.1	NP_009057.1	VCP		HPRD	PubMed

NP_009225.1	NP_006288.1	XRCC1		HPRD	PubMed

NP_009225.1	NP_067645.2	ZNF350		HPRD	PubMed

NP_009225.1	BRG1			HPRD	PubMed

NP_009225.1	Importin alpha			HPRD	PubMed

NP_009225.1	LMO4			HPRD	PubMed

NP_009225.1	RNA Polymerase II			HPRD	PubMed
BRCA1 possesses E3 ubiquitin ligase activity and auto-ubiquitinates
NP_009226.1	NP_009226.1	BRCA1		BIND	PubMed
BRCA1 interacts with Smad2. This interaction was modeled on a demonstrated interaction between BRCA1 from human and Smad2 from an unspecified species.
NP_009226.1	NP_005892.1	SMAD2		BIND	PubMed
BRCA1 interacts with Smad3.
NP_009226.1	NP_005893.1	SMAD3		BIND	PubMed
BRCA1 interacts with Smad4. This interaction was modeled on a demonstrated interaction between BRCA1 from human and Smad4 from an unspecified species.
NP_009226.1	NP_005350.1	SMAD4		BIND	PubMed
BRCA1 interacts with Ub. This interaction was modelled on a demonstrated interaction between human BRCA1 and Ub from an unspecified source.
NP_009226.1	NP_061828.1	UBB		BIND	PubMed
BRCA1 interacts with acetyl-CoA carboxylase.
NP_009227.1	NP_000655.1	ACACA		BIND	PubMed
BRCA1 physically and functionally interacts with ATR during genotoxic stress
NP_009227.1	NP_001175.1	ATR		BIND	PubMed
BRCA1 interacts with BRCA2.
NP_009227.1	NP_000050.1	BRCA2		BIND	PubMed
BRCA1 associates with Cyclin A
NP_009227.1	NP_003905.1	CCNA1		BIND	PubMed
BRCA1 is a tyrosine phosphoprotein that associates with Cyclin B1
NP_009227.1	NP_114172.1	CCNB1		BIND	PubMed
BRCA1 associates with Cyclin D1
NP_009227.1	NP_444284.1	CCND1		BIND	PubMed
BRCA1 associates with CDK2
NP_009227.1	NP_001789.2	CDK2		BIND	PubMed
BRCA1 associates with CDK4
NP_009227.1	NP_000066.1	CDK4		BIND	PubMed
BRCA1 is phosphorylated by Casein kinase 2 through a physical interaction with CSNK2B
NP_009227.1	NP_001311.3	CSNK2B		BIND	PubMed
BRCA1 associates with E2F-1
NP_009227.1	NP_005216.1	E2F1		BIND	PubMed
BRCA1 associates with E2F-4
NP_009227.1	NP_001941.2	E2F4		BIND	PubMed
BRCA1 interacts with FANCA.
NP_009227.1	NP_000126.1	FANCA		BIND	PubMed
BRCA1 interacts with HDAC1
NP_009227.1	NP_004955.2	HDAC1		BIND	PubMed
BRCA1 interacts with HDAC2
NP_009227.1	NP_001518.1	HDAC2		BIND	PubMed
BRCA1 interacts with c-Jun.
NP_009227.1	NP_002219.1	JUN		BIND	PubMed
BRCA1 interacts with JunB.
NP_009227.1	NP_002220.1	JUNB		BIND	PubMed
BRCA1 interacts with JunD.
NP_009227.1	NP_005345.2	JUND		BIND	PubMed
The LIM domain protein LMO4 interacts with BRCA1
NP_009227.1	NP_006760.1	LMO4		BIND	PubMed
BRCA1 interacts with MSH2 in the absence of ADP-MSH2 interaction.
NP_009227.1	NP_000242.1	MSH2		BIND	PubMed
BRCA1 associates with MSH6.
NP_009227.1	NP_000170.1	MSH6		BIND	PubMed
BRCA1 association with c-Myc, a proto-oncogene that is implicated in tumorigenesis, embryonic development and apoptosis, inhibits its transcriptional and transforming activity in cells.
NP_009227.1	NP_002458.1	MYC		BIND	PubMed
BRCA1 interacts with NF-YA
NP_009227.1	NP_002496.1	NFYA		BIND	PubMed
BRCA1 interacts with Nmi.
NP_009227.1	NP_004679.1	NMI		BIND	PubMed
BRCA1 interacts with NUFIP.
NP_009227.1	NP_036477.1	NUFIP1		BIND	PubMed
BRCA1 interacts with Oct-1.
NP_009227.1	NP_002688.2	POU2F1		BIND	PubMed
BRCA1 and Rad51 associate in mitotic and meiotic cells
NP_009227.1	NP_002866.2	RAD51		BIND	PubMed
BRCA1 and Rad51 associate in mitotic and meiotic cells
NP_009227.1	NP_597994.1	RAD51		BIND	PubMed
BRCA1 interacts with Rb.
NP_009227.1	NP_000312.1	RB1		BIND	PubMed
BRCA1 interacts with RbAp48.
NP_009227.1	NP_005601.1	RBBP4		BIND	PubMed
BRCA1 interacts with RbAp46.
NP_009227.1	NP_002884.1	RBBP7		BIND	PubMed
BRCA1 interacts with CtIP.
NP_009227.1	NP_002885.1	RBBP8		BIND	PubMed
BRCA1 interacts with Sp1.
NP_009227.1	AAF67726.1	SP1		BIND	PubMed
BRCA1 physically associates with p53 and stimulates its transcriptional activity
NP_009227.1	NP_000537.2	TP53		BIND	PubMed
BRCA1 interacts with Nmi homodimer
NP_009227.1				BIND	PubMed
BRCA1a interacts with p53.
NP_009235.1	NP_000537.2	TP53		BIND	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:106543	ABL1		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western
BioGRID:107140	BioGRID:106549	ACACA		BioGRID	PubMed
Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:107140	BioGRID:106710	AKT1		BioGRID	PubMed
Far Western
BioGRID:107140	BioGRID:106831	APLP2		BioGRID	PubMed
Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:106862	AR		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:31972	ASM4		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:106956	ATF1		BioGRID	PubMed
Affinity Capture-Western; Co-purification; Protein-peptide; Reconstituted Complex
BioGRID:107140	BioGRID:106962	ATM		BioGRID	PubMed
Affinity Capture-Western; Protein-peptide; Reconstituted Complex
BioGRID:107140	BioGRID:107027	ATR		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:112666	AURKA		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:107047	BACH1		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Co-localization; Co-purification; FRET; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:107056	BARD1		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:107110	BLM		BioGRID	PubMed
Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:113912	BRAP		BioGRID	PubMed
Co-crystal Structure; Protein-peptide; Reconstituted Complex
BioGRID:107140	BioGRID:107140	BRCA1		BioGRID	PubMed
Affinity Capture-Western; Co-purification; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:107142	BRCA2		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western; Co-purification
BioGRID:107140	BioGRID:122599	BRCC3		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western; Co-purification
BioGRID:107140	BioGRID:114946	BRE		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Protein-peptide; Reconstituted Complex
BioGRID:107140	BioGRID:123841	BRIP1		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:114417	CCNA1		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:107331	CCNA2		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:107332	CCNB1		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:107067	CCND1		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:107338	CCNE1		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:31745	CCR4		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:107420	CDC2		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:107452	CDK2		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:107454	CDK4		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:107455	CDK5		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:107458	CDK8		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:107471	CDS1		BioGRID	PubMed
Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:107140	BioGRID:116369	CHEK2		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:122015	CLSPN		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:117421	COBRA1		BioGRID	PubMed
Phenotypic Enhancement
BioGRID:107140	BioGRID:107775	CREB1		BioGRID	PubMed
Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
BioGRID:107140	BioGRID:107777	CREBBP		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:107841	CSNK2A1		BioGRID	PubMed
Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:107843	CSNK2B		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:107859	CSTF1		BioGRID	PubMed
Affinity Capture-Western; Co-purification
BioGRID:107140	BioGRID:107860	CSTF2		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:107869	CTBP1		BioGRID	PubMed
Protein-peptide
BioGRID:107140	BioGRID:126653	CTCFL		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:34079	DEF1		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:31903	DHH1		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:108025	DHX9		BioGRID	PubMed
Protein-peptide
BioGRID:107140	BioGRID:114547	DNAJA3		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:108206	E2F4		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:108320	ELK4		BioGRID	PubMed
Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
BioGRID:107140	BioGRID:108347	EP300		BioGRID	PubMed
Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:107140	BioGRID:108403	ESR1		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:108414	ETS1		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:108472	FANCA		BioGRID	PubMed
Co-localization; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:108474	FANCD2		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:108565	FHL2		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:108602	FLI1		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:109215	GTF2E1		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:109217	GTF2F1		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:109223	GTF2H4		BioGRID	PubMed
Co-localization; Reconstituted Complex
BioGRID:107140	BioGRID:109268	H2AFX		BioGRID	PubMed
Co-localization
BioGRID:107140	BioGRID:114927	H2AFY		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:109315	HDAC1		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:109316	HDAC2		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:113934	HIST2H2AC		BioGRID	PubMed
Co-localization
BioGRID:107140	BioGRID:126025	HIST2H3C		BioGRID	PubMed
Two-hybrid
BioGRID:107140	BioGRID:109544	HSPA8		BioGRID	PubMed
Affinity Capture-Western; Co-localization
BioGRID:107140	BioGRID:200523	Ifi204		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:109919	JAK1		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:109920	JAK2		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:109928	JUN		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:109929	JUNB		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:109930	JUND		BioGRID	PubMed
Protein-peptide
BioGRID:107140	BioGRID:116723	KIF1B		BioGRID	PubMed
Two-hybrid
BioGRID:107140	BioGRID:110036	KPNA2		BioGRID	PubMed
Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:114113	LMO4		BioGRID	PubMed
Affinity Capture-Western; Two-hybrid
BioGRID:107140	BioGRID:110379	MAP3K3		BioGRID	PubMed
Protein-peptide
BioGRID:107140	BioGRID:114838	MAP4K4		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:115014	MDC1		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:111465	MED1		BioGRID	PubMed
Affinity Capture-MS
BioGRID:107140	BioGRID:115294	MED13		BioGRID	PubMed
Affinity Capture-MS; Co-purification
BioGRID:107140	BioGRID:114830	MED17		BioGRID	PubMed
Affinity Capture-Western; Co-purification
BioGRID:107140	BioGRID:114807	MED21		BioGRID	PubMed
Affinity Capture-MS
BioGRID:107140	BioGRID:114829	MED23		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western
BioGRID:107140	BioGRID:115196	MED24		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:110438	MLH1		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:34843	MLP2		BioGRID	PubMed
Affinity Capture-Western; Co-localization; Co-purification; Reconstituted Complex
BioGRID:107140	BioGRID:110501	MRE11A		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:35160	MRPL39		BioGRID	PubMed
Co-purification; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:110573	MSH2		BioGRID	PubMed
Protein-peptide; Reconstituted Complex
BioGRID:107140	BioGRID:110574	MSH3		BioGRID	PubMed
Co-purification; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:109211	MSH6		BioGRID	PubMed
Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:110694	MYC		BioGRID	PubMed
Co-localization; Co-purification
BioGRID:107140	BioGRID:110763	NBN		BioGRID	PubMed
Protein-peptide; Reconstituted Complex
BioGRID:107140	BioGRID:115761	NCOA2		BioGRID	PubMed
Protein-peptide
BioGRID:107140	BioGRID:113841	NCOA3		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:110866	NFYA		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:114561	NMI		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:110929	NPM1		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:117807	NUFIP1		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:34076	NUP120		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:34213	NUP133		BioGRID	PubMed
Protein-peptide
BioGRID:107140	BioGRID:115297	NUP153		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:32624	NUP170		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:35040	NUP188		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:31599	NUP2		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:111041	ORC2L		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:117130	ORC3L		BioGRID	PubMed
Two-hybrid
BioGRID:107140	BioGRID:111154	PCTK1		BioGRID	PubMed
Far Western
BioGRID:107140	BioGRID:111204	PEG3		BioGRID	PubMed
Affinity Capture-Western; Co-purification
BioGRID:107140	BioGRID:111426	POLR2A		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:31292	POM34		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:111447	POU2F1		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:111493	PPP1CA		BioGRID	PubMed
Protein-peptide
BioGRID:107140	BioGRID:111577	PRKDC		BioGRID	PubMed
Affinity Capture-Western; Co-localization; Co-purification; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:115417	RAD50		BioGRID	PubMed
Affinity Capture-MS; Affinity Capture-Western; Co-purification; Reconstituted Complex
BioGRID:107140	BioGRID:111825	RAD51		BioGRID	PubMed
Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:107140	BioGRID:111860	RB1		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:111863	RBBP4		BioGRID	PubMed
Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:111866	RBBP7		BioGRID	PubMed
Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:111867	RBBP8		BioGRID	PubMed
Co-localization; Reconstituted Complex
BioGRID:107140	BioGRID:111868	RBL1		BioGRID	PubMed
Co-localization; Reconstituted Complex
BioGRID:107140	BioGRID:111869	RBL2		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:111902	RELA		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:111913	RFC1		BioGRID	PubMed
Far Western; Reconstituted Complex
BioGRID:107140	BioGRID:112079	RPL31		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:112479	SMARCA2		BioGRID	PubMed
Affinity Capture-Western; Co-purification; Reconstituted Complex
BioGRID:107140	BioGRID:112481	SMARCA4		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:112482	SMARCB1		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:112483	SMARCC1		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:112485	SMARCC2		BioGRID	PubMed
Co-purification
BioGRID:107140	BioGRID:112487	SMARCD2		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:112550	SP1		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:33308	SPT4		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:35159	SPT5		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:112649	STAT1		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:112653	STAT5A		BioGRID	PubMed
Synthetic Rescue
BioGRID:107140	BioGRID:35211	SUB1		BioGRID	PubMed
TOP2A (Topo II) interacts with BRCA1
	NP_001058.2	TOP2A		BIND	PubMed
Affinity Capture-MS; Affinity Capture-Western; Co-purification; Reconstituted Complex
BioGRID:107140	BioGRID:113010	TP53		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:113011	TP53BP1		BioGRID	PubMed
Affinity Capture-Western; Co-localization; Co-purification; Reconstituted Complex
BioGRID:107140	BioGRID:113134	TUBG1		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:113165	UBA1		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:113169	UBE2D1		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:113180	UBE2L3		BioGRID	PubMed
Reconstituted Complex
BioGRID:107140	BioGRID:113185	UBE3A		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:113238	USF2		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107140	BioGRID:113258	VCP		BioGRID	PubMed
Far Western
BioGRID:107140	BioGRID:113319	WNT2B		BioGRID	PubMed
Co-localization
BioGRID:107140	BioGRID:113340	XIST		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107140	BioGRID:120739	ZCCHC8		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107140	BioGRID:121889	ZNF350		BioGRID	PubMed

[Top][Help]General gene information

Markers

GDB:454458(e-PCR): Links: UniSTS:157440

GDB:454462(e-PCR): Links: UniSTS:157441

GDB:454466(e-PCR): Links: UniSTS:157442

PMC280658P1(e-PCR): Links: UniSTS:272396

PMC280658P2(e-PCR): Links: UniSTS:272397

RH79896(e-PCR): Links: UniSTS:90392

PMC139147P1(e-PCR): Links: UniSTS:270874

PMC13918P1(e-PCR): Links: UniSTS:270877

NoName(e-PCR): Links: UniSTS:482866

D17S1322(e-PCR): Links: UniSTS:150079

D17S1323(e-PCR): Links: UniSTS:150080

BRCA1_4046(e-PCR): Links: UniSTS:464465

G60034(e-PCR): Links: UniSTS:137300

BRCA1(e-PCR): Links: UniSTS:262743

D17S932(e-PCR): Links: UniSTS:49519

PMC110706P1(e-PCR): Links: UniSTS:270193

PMC310899P11(e-PCR): Links: UniSTS:272801

PMC310899P12(e-PCR): Links: UniSTS:272802

PMC310899P2(e-PCR): Links: UniSTS:272804

PMC310899P3(e-PCR): Links: UniSTS:272805

PMC310899P5(e-PCR): Links: UniSTS:272806

PMC310899P6(e-PCR): Links: UniSTS:272807

PMC310899P8(e-PCR): Links: UniSTS:272808

GDB:626829(e-PCR): Links: UniSTS:158401

G10044(e-PCR): Links: UniSTS:1986

GDB:626905(e-PCR): Links: UniSTS:158402

D17S855(e-PCR): Links: UniSTS:147918

D17S1198(e-PCR): Links: UniSTS:56291

GDB:388557(e-PCR): Links: UniSTS:157159

GDB:388674(e-PCR): Links: UniSTS:157161

GDB:388688(e-PCR): Links: UniSTS:157162

D5S1597E(e-PCR): Links: UniSTS:151019

GDB:389033(e-PCR): Links: UniSTS:157163

GDB:389047(e-PCR): Links: UniSTS:157164

GDB:389054(e-PCR): Links: UniSTS:157165

GDB:631944(e-PCR): Links: UniSTS:158446

GDB:391358(e-PCR): Links: UniSTS:157167

GDB:391365(e-PCR): Links: UniSTS:157168

GDB:454227(e-PCR): Links: UniSTS:157424

GDB:391372(e-PCR): Links: UniSTS:157169

GDB:454278(e-PCR): Links: UniSTS:157425

GDB:391818(e-PCR): Links: UniSTS:157170

GDB:454349(e-PCR): Links: UniSTS:157426

GDB:391825(e-PCR): Links: UniSTS:157171

GDB:454353(e-PCR): Links: UniSTS:157427

GDB:391832(e-PCR): Links: UniSTS:157172

GDB:454372(e-PCR): Links: UniSTS:157428

GDB:391839(e-PCR): Links: UniSTS:157173

GDB:454381(e-PCR): Links: UniSTS:157429

GDB:391846(e-PCR): Links: UniSTS:157174

GDB:454417(e-PCR): Links: UniSTS:157430

GDB:391853(e-PCR): Links: UniSTS:157175

GDB:454421(e-PCR): Links: UniSTS:157431

GDB:391860(e-PCR): Links: UniSTS:157176

GDB:454425(e-PCR): Links: UniSTS:157432

GDB:391867(e-PCR): Links: UniSTS:157177

GDB:454429(e-PCR): Links: UniSTS:157433

GDB:391874(e-PCR): Links: UniSTS:157178

GDB:454433(e-PCR): Links: UniSTS:157434

SHGC-151111(e-PCR): Links: UniSTS:173306

GDB:391881(e-PCR): Links: UniSTS:157179

GDB:454437(e-PCR): Links: UniSTS:157435

GDB:454441(e-PCR): Links: UniSTS:157436

GDB:454446(e-PCR): Links: UniSTS:157437

GDB:454450(e-PCR): Links: UniSTS:157438

GDB:454454(e-PCR): Links: UniSTS:157439

Phenotypes

Breast cancer-1: MIM: 113705
Breast-ovarian cancer: MIM: 113705
Breast-ovarian cancer, familial, 1: MIM: 604370
Ovarian cancer: MIM: 113705
Papillary serous carcinoma of the peritoneum: MIM: 113705

Genotypes

See BRCA1 SNP Genotype Report

See BRCA1 SNP Geneview Report

Related pseudogene(s)

1 foundReview record(s) in Gene

Homology

Homologs of the BRCA1 gene The BRCA1 gene is conserved in chimpanzee, dog, cow, mouse, rat, and chicken.

Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Ubiquitin mediated proteolysis: 04120
Reactome Event:DNA Repair: REACT_216

Gene Ontology Provided by GOA

Function	Evidence
DNA binding	TAS	PubMed
androgen receptor binding	NAS	PubMed
enzyme binding	IPI	PubMed
identical protein binding	IPI	PubMed
ligase activity	IEA
metal ion binding	IEA
transcription coactivator activity	NAS	PubMed
tubulin binding	NAS	PubMed
ubiquitin-protein ligase activity	IDA	PubMed
zinc ion binding	TAS	PubMed

Process	Evidence
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	TAS	PubMed
DNA damage response, signal transduction resulting in induction of apoptosis	IDA	PubMed
G2/M transition DNA damage checkpoint	IMP	PubMed
androgen receptor signaling pathway	NAS	PubMed
cell cycle	IEA
chromosome segregation	IMP	PubMed
double-strand break repair via homologous recombination	IDA	PubMed
modification-dependent protein catabolic process	IEA
negative regulation of centriole replication	NAS	PubMed
negative regulation of fatty acid biosynthetic process	IMP	PubMed
negative regulation of transcription	IDA	PubMed
positive regulation of DNA repair	IMP	PubMed
positive regulation of protein ubiquitination	IDA	PubMed
positive regulation of transcription, DNA-dependent	NAS	PubMed
postreplication repair	IDA	PubMed
regulation of apoptosis	TAS	PubMed
regulation of cell proliferation	TAS	PubMed
regulation of transcription from RNA polymerase II promoter	TAS	PubMed
regulation of transcription from RNA polymerase III promoter	TAS	PubMed
response to DNA damage stimulus	TAS	PubMed
response to estrogen stimulus	IDA	PubMed
response to ionizing radiation	IMP	PubMed

Component	Evidence
BRCA1-A complex	IDA	PubMed
BRCA1-BARD1 complex	IDA	PubMed
cytoplasm	IEA
gamma-tubulin ring complex	NAS	PubMed
intracellular	IEA
nucleoplasm	EXP	PubMed
nucleus	IDA	PubMed
ribonucleoprotein complex	IDA	PubMed
ubiquitin ligase complex	NAS	PubMed

[Top][Help]General protein information

Preferred Names: breast cancer 1, early onset

Names: breast cancer 1, early onset; RING finger protein 53; BRCA1/BRCA2-containing complex, subunit 1; breast and ovarian cancer susceptibility protein 1; breast and ovarian cancer sususceptibility protein

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

NG_005905.2 RefSeqGene

Range

92500..173688

Download

GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007294.3 → NP_009225.1 breast cancer 1, early onset isoform 1

Description

Transcript Variant: This variant (1, also known as BRCA1a) represents the more frequently occurring transcript. It encodes the full-length BRCA1 protein (isoform 1), which is also known as p220.

Source sequence(s)

AL701927,BC072418,BU617173,BU679389,U14680

Consensus CDS

CCDS11453.1

UniProtKB/Swiss-Prot

P38398

UniProtKB/TrEMBL

Q3LRJ6

Conserved Domains (3) summary

cd00162
Location:23 – 68
Blast Score: 134

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...

COG5432
Location:18 – 136
Blast Score: 98

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]

cl00038
Location:1759 – 1842
Blast Score: 147

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo...
NM_007297.3 → NP_009228.2 breast cancer 1, early onset isoform 3

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translational start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

BC072418,BU617173,BU679389,U14680

Consensus CDS

CCDS11459.1

Conserved Domains (1) summary

cl00038
Location:1712 – 1795
Blast Score: 147

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo...
NM_007298.3 → NP_009229.2 breast cancer 1, early onset isoform 4

Description

Transcript Variant: This variant (4, also known as BRCA1-delta11b) differs in the 5' UTR and uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AL701927,BC072418,BU617173,BU679389,U64805

Consensus CDS

CCDS11454.1

Conserved Domains (3) summary

cd00162
Location:23 – 68
Blast Score: 131

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...

COG5432
Location:18 – 136
Blast Score: 101

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]

cl00038
Location:655 – 738
Blast Score: 148

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo...
NM_007299.3 → NP_009230.2 breast cancer 1, early onset isoform 5

Description

Transcript Variant: This variant (5) differs in the 5' UTR, uses two alternate in-frame splice sites in the central coding region, and lacks an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC072418,BU617173,BU679389

Consensus CDS

CCDS11455.1

UniProtKB/TrEMBL

Q6IN79

Conserved Domains (2) summary

cd00162
Location:23 – 68
Blast Score: 126

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...

COG5432
Location:18 – 136
Blast Score: 100

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
NM_007300.3 → NP_009231.2 breast cancer 1, early onset isoform 2

Description

Transcript Variant: This variant (2) includes an alternate in-frame exon and an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is longer than isoform 1.

Source sequence(s)

AC135721,AL701927,BC072418,BC115037,BU617173,BU679389,U14680

Consensus CDS

CCDS11456.1

RNA

NR_027676.1 RNA Sequence

Description

Transcript Variant: This variant (6) includes an alternate 5' exon and alternate splice sites in two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF005068,AK308084,BC072418,BU617173,BU679389,U14680

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

NC_000017.10

Range

41196313..41277467, complement

Download

GenBank FASTA Sequence Viewer (Graphics)
NT_010783.15

Range

6470465..6551619, complement

Download

GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

AC_000060.1

Range

37853172..37934321, complement

Download

GenBank FASTA Sequence Viewer (Graphics)
NW_926828.1

Range

4724363..4805512, complement

Download

GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

AC_000149.1

Range

36962665..37043777

Download

GenBank FASTA Sequence Viewer (Graphics)
NW_001838436.2

Range

119947..201059

Download

GenBank FASTA Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_007295.2: Suppressed sequence

Description

NM_007295.2: This RefSeq was permanently suppressed because only partial transcript evidence exists for this transcript variant, and its full-length exon combination is unclear.
NM_007296.2: Suppressed sequence

Description

NM_007296.2: This RefSeq was permanently suppressed because there is no full-length transcript support for the exon combination of this variant.
NM_007301.2: Suppressed sequence

Description

NM_007301.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_007302.2: Suppressed sequence

Description

NM_007302.2: This RefSeq was permanently suppressed because only partial transcript evidence exists for this transcript variant, and its full-length exon combination is unclear.
NM_007303.2: Suppressed sequence

Description

NM_007303.2: This RefSeq was permanently suppressed because the full-length sequence of this transcript variant is unavailable, and its full-length exon combination is unclear.
NM_007305.2: Suppressed sequence

Description

NM_007305.2: This RefSeq was permanently suppressed because the full-length sequence of this transcript variant is unavailable, and its full-length exon combination is unclear.
NM_007306.2: Suppressed sequence

Description

NM_007306.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

[Top][Help]Related Sequences

Nucleotide		Protein
genomic	AC135721.4 (33969..115123)	None
genomic	AF284812.1	AAF97939.1
genomic	AF507076.1	AAN61423.1
genomic	AF507078.1	AAN61425.1
genomic	AY093484.1	AAM18218.1
genomic	AY093485.1	AAM18219.1
genomic	AY093486.1	AAM18220.1
genomic	AY093487.1	AAM18221.1
genomic	AY093489.1	AAM18222.1
genomic	AY093490.1	AAM18223.1
genomic	AY093492.1	AAM18225.1
genomic	AY093493.1	AAM18226.1
genomic	AY144588.1	AAN10167.1
genomic	AY273801.1	AAP12647.1
genomic	AY304547.1	AAP70031.1
genomic	AY706911.1	AAU21563.1
genomic	AY706912.1	AAU21564.1
genomic	CH471152.1	EAW60922.1
		EAW60923.1
		EAW60924.1
		EAW60925.1
		EAW60926.1
		EAW60927.1
		EAW60928.1
		EAW60929.1
		EAW60930.1
		EAW60931.1
		EAW60932.1
		EAW60933.1
		EAW60934.1
		EAW60935.1
		EAW60936.1
		EAW60937.1
		EAW60938.1
		EAW60939.1
		EAW60940.1
		EAW60941.1
		EAW60942.1
genomic	DQ116737.1	AAZ16492.1
genomic	DQ145822.1	AAZ79406.1
genomic	DQ145823.1	AAZ79407.1
genomic	DQ145825.1	AAZ79409.1
genomic	DQ145826.1	AAZ79410.1
genomic	DQ190450.1	ABA29208.1
genomic	DQ190451.1	ABA29211.1
genomic	DQ190452.1	ABA29214.1
genomic	DQ190453.1	ABA29217.1
genomic	DQ190454.1	ABA29220.1
genomic	DQ190455.1	ABA29223.1
genomic	DQ190456.1	ABA29226.1
genomic	DQ190457.1	ABA29229.1
genomic	DQ299305.1	ABB87053.1
genomic	DQ299306.1	ABB87054.1
genomic	DQ299307.1	ABB87055.1
genomic	DQ299308.1	ABB87056.1
genomic	DQ299309.1	ABB87057.1
genomic	DQ299310.1	ABB87058.1
genomic	DQ299311.1	ABB87059.1
genomic	DQ299312.1	ABB87060.1
genomic	DQ299313.1	ABB87061.1
genomic	DQ299314.1	ABB87062.1
genomic	DQ299315.1	ABB87063.1
genomic	DQ299316.1	ABB87064.1
genomic	DQ299317.1	ABB87065.1
genomic	DQ299318.1	ABB87066.1
genomic	DQ299319.1	ABB87067.1
genomic	DQ299321.1	ABB87069.1
genomic	DQ299322.1	ABB87070.1
genomic	DQ299323.1	ABB87071.1
genomic	DQ299324.1	ABB87072.1
genomic	DQ299325.1	ABB87073.1
genomic	DQ299326.1	ABB87074.1
genomic	DQ299327.1	ABB87075.1
genomic	DQ299328.1	ABB87076.1
genomic	DQ299329.1	ABB87077.1
genomic	DQ299330.1	ABB87078.1
genomic	DQ299331.1	ABB87079.1
genomic	DQ478408.1	ABF14462.1
genomic	L78833.1	AAC37594.1
genomic	U15595.1	None
genomic	U37574.1	AAC50330.1
genomic	U61268.1	AAB40910.1
genomic	Y08757.1	CAA70003.1
mRNA	AF005068.1	AAB61673.1
mRNA	AF274503.1	None
mRNA	AK293762.1	BAG57181.1
mRNA	AK307553.1	None
mRNA	AK308084.1	None
mRNA	AK316200.1	BAH14571.1
mRNA	AL701927.1	None
mRNA	AY354539.2	AAQ92977.1
mRNA	AY751490.1	AAU93634.1
mRNA	BC012577.1	None
mRNA	BC030969.1	AAH30969.1
mRNA	BC038947.1	None
mRNA	BC046142.1	None
mRNA	BC062429.1	AAH62429.1
mRNA	BC072418.1	AAH72418.1
mRNA	BC085615.1	AAH85615.1
mRNA	BC106745.1	AAI06746.1
mRNA	BC106746.1	AAI06747.1
mRNA	BC114511.1	None
mRNA	BC114562.1	None
mRNA	BC115037.1	AAI15038.1
mRNA	BU617173.1	None
mRNA	BU679389.1	None
mRNA	DQ333386.1	ABC59810.1
mRNA	DQ333387.1	ABC59811.1
mRNA	DQ363751.1	ABC88652.1
mRNA	U14680.1	AAA73985.1
mRNA	U64805.1	AAC00049.1
mRNA	U68041.1	AAB08105.1
mRNA	Y08864.1	None

Protein Accession	Links
P38398.2	GenPept	UniProtKB/Swiss-Prot:P38398
Q05BZ9	GenPept	UniProtKB/TrEMBL:Q05BZ9
Q1RMC1	GenPept	UniProtKB/TrEMBL:Q1RMC1
Q3B890	GenPept	UniProtKB/TrEMBL:Q3B890
Q3B891	GenPept	UniProtKB/TrEMBL:Q3B891
Q3LRH8	GenPept	UniProtKB/TrEMBL:Q3LRH8
Q3LRJ0	GenPept	UniProtKB/TrEMBL:Q3LRJ0
Q3LRJ6	GenPept	UniProtKB/TrEMBL:Q3LRJ6
Q3YB49	GenPept	UniProtKB/TrEMBL:Q3YB49
Q3YB50	GenPept	UniProtKB/TrEMBL:Q3YB50
Q3YB52	GenPept	UniProtKB/TrEMBL:Q3YB52
Q3YB53	GenPept	UniProtKB/TrEMBL:Q3YB53
Q4EW25	GenPept	UniProtKB/TrEMBL:Q4EW25
Q5U3B7	GenPept	UniProtKB/TrEMBL:Q5U3B7
Q5XLT4	GenPept	UniProtKB/TrEMBL:Q5XLT4
Q5YLB2	GenPept	UniProtKB/TrEMBL:Q5YLB2
Q64FK2	GenPept	UniProtKB/TrEMBL:Q64FK2
Q64FK3	GenPept	UniProtKB/TrEMBL:Q64FK3
Q6IN79	GenPept	UniProtKB/TrEMBL:Q6IN79
Q6P671	GenPept	UniProtKB/TrEMBL:Q6P671
Q7KYU6	GenPept	UniProtKB/TrEMBL:Q7KYU6
Q7Z606	GenPept	UniProtKB/TrEMBL:Q7Z606
Q8IU58	GenPept	UniProtKB/TrEMBL:Q8IU58
Q8IZK2	GenPept	UniProtKB/TrEMBL:Q8IZK2
Q8IZK4	GenPept	UniProtKB/TrEMBL:Q8IZK4
Q92897	GenPept	UniProtKB/TrEMBL:Q92897
Q9NQR3	GenPept	UniProtKB/TrEMBL:Q9NQR3
Q9UE29	GenPept	UniProtKB/TrEMBL:Q9UE29