ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
Variation ID: 37392 Accession: VCV000037392.46
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43115744 (GRCh38) [ NCBI UCSC ] 17: 41267761 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Apr 15, 2024 Dec 22, 2023 - HGVS
- ... more HGVS ... less HGVS
- Protein change
- C39Y
- Other names
- -
- Canonical SPDI
- NC_000017.11:43115743:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_abnormal Sequence Ontology [SO:0002218]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.116G>A, a MISSENSE variant, produced a function score of -2.66, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00003
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12752 | 14513 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Jun 15, 2023 | RCV000030973.16 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Dec 3, 2022 | RCV000235619.22 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jul 31, 2023 | RCV000222558.9 | |
Pathogenic (2) |
criteria provided, single submitter
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Dec 22, 2023 | RCV000496391.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 19, 2017 | RCV000677804.3 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV003332086.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 19, 2017)
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criteria provided, single submitter
Method: clinical testing
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Neoplasm of the breast
Affected status: yes
Allele origin:
germline
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3DMed Clinical Laboratory Inc
Accession: SCV000803963.1
First in ClinVar: Aug 26, 2018 Last updated: Aug 26, 2018 |
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Pathogenic
(Apr 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499754.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
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Pathogenic
(Apr 05, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002538002.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000324974.4
First in ClinVar: May 27, 2015 Last updated: Dec 11, 2022 |
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Pathogenic
(Dec 09, 2022)
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criteria provided, single submitter
Method: research
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: no
Allele origin:
germline
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV002762791.2
First in ClinVar: Dec 17, 2022 Last updated: Feb 25, 2023 |
Comment:
PS3, PS4_STR, PM2_SUP, PM5
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Pathogenic
(Apr 29, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000293476.10
First in ClinVar: Jul 24, 2016 Last updated: Mar 04, 2023 |
Comment:
Observed in multiple Hereditary Breast and Ovarian Cancer families, and has been described as a pathogenic founder variant from regions of Italy and Slovenia (Santarosa … (more)
Observed in multiple Hereditary Breast and Ovarian Cancer families, and has been described as a pathogenic founder variant from regions of Italy and Slovenia (Santarosa 1998, Stegel 2011, Juwle 2012, Novakovic 2012, Krajc 2014, Cini 2016); Published functional studies demonstrate a damaging effect: defective ubiquitin ligase activity, homology directed repair activity, BARD1 binding, double-strand break repair, and classified as non-functional based on a saturation genome editing (SGE) assay measuring cell survival (Ruffner 2001, Ransburgh 2010, Millot 2011, Kais 2012, Towler 2013, Findlay 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 235G>A; This variant is associated with the following publications: (PMID: 26852130, 21232165, 22923021, 15385441, 20103620, 30733539, 29446198, 21922593, 23161852, 15235020, 21725363, 11320250, 9808526, 22752604, 23397983, 25823446, 27272900, 30209399, 30696104, 30040829, 32719484, 30078507, 24389207, 20104584, 8944023, 33087888) (less)
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Pathogenic
(Jun 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004215094.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Dec 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004222551.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
The frequency of this variant in the general population, 0.000032 (1/31396 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been … (more)
The frequency of this variant in the general population, 0.000032 (1/31396 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals with a personal and/or family history of breast and/or ovarian cancer (PMIDs: 9808526 (1998), 22923021 (2012), 23397983 (2014), 26852130 (2016), 30078507 (2018), 29446198 (2018), and 32772980 (2020). Functional studies report a reduction of E3 ubiquitin ligase activity, RING domain binding, resistance to ionizing radiation, and DNA repair ability (PMIDs: 11320250 (2001), 20103620 (2010), 25823446 (2015), and 33087888 (2021)). Additionally, the variant is linked to the amplification of centromeres, leading to an increase in abnormal chromosomes within cells (PMID: 21725363 (2012)). Yeast assays further support the variant's pathogenicity via colony growth patterns (PMID: 21922593 (2011). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jul 26, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000277193.4
First in ClinVar: May 29, 2016 Last updated: Nov 29, 2022 |
Comment:
The p.C39Y pathogenic mutation (also known as c.116G>A), located in coding exon 2 of the BRCA1 gene, results from a G to A substitution at … (more)
The p.C39Y pathogenic mutation (also known as c.116G>A), located in coding exon 2 of the BRCA1 gene, results from a G to A substitution at nucleotide position 116. The cysteine at codon 39 is replaced by tyrosine, an amino acid with highly dissimilar properties. The cysteine at codon 39 is a putative zinc-binding residue occurring in the functionally important RING domain of the BRCA1 protein. Cells with p.C39Y are deficient in the control of centrosome number (Kais Z et al. Oncogene. 2012 Feb 9;31(6):799-804). Other studies have demonstrated abolishment and decreased activity of ubiquitin protein ligase function the BRCA1 RING finger in vitro (Ruffner H et al. Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5134-9; Starita LM et al. Genetics. 2015 Jun;200(2):413-22). In addition, p.C39Y failed to reverse gamma radiation (IR) hypersensitivity in vivo (Ruffner H et al. Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5134-9). Furthermore, cells with p.C39Y were found to be defective in the repair of double-strand breaks by homology-directed recombination (HDR) and double-strand break repair by the single-strand annealing (SSA) pathway (Towler WI et al. Hum Mutat. 2013 Mar;34(3):439-45). Other studies found cells with p.C39Y to be deficient in BARD1 binding (Ransburgh DJ et al. Cancer Res. 2010 Feb 1;70(3):988-95; Starita LM et al. Genetics. 2015 Jun;200(2):413-22). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). In addition to these functional studies, this mutation has been identified in multiple breast and/or ovarian cancer families to date (Santarosa M et al. Int J Cancer. 1998 Nov 23;78(5):581-6; Stegel V et al. BMC Med Genet. 2011 Jan 14;12:9; Juwle A et al. Med Oncol. 2012 Dec;29(5):3272-81; Krajc M et al. Clin Genet, 2014 Jan;85:59-63; Cini G et al. BMC Med Genet, 2016 Feb;17:11; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620; Bakkach J et al. BMC Cancer, 2020 Sep;20:859). Furthermore, a different alteration at the same codon, p.C39R, has been classified as definitely pathogenic (p>0.99) by multifactorial analysis, which integrates the following lines of evidence to produce a quantitative likelihood of pathogenicity: in silico prediction models, segregation with disease, tumor characteristics, mutation co-occurrence, and functional assay results (Easton D et al. Am J Hum Genet. 2007;81:873-883; Vallee M et al. Hum Mutat. 2012 Jan;33(1):22-8). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Dec 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001583684.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 39 of the BRCA1 protein … (more)
This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 39 of the BRCA1 protein (p.Cys39Tyr). This variant is present in population databases (rs80357498, gnomAD 0.007%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 9808526, 21232165, 22752604, 22923021, 23397983, 26852130). This variant is also known as 235G>A. ClinVar contains an entry for this variant (Variation ID: 37392). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 11320250, 20103620, 21725363, 21922593, 23161852, 27272900). This variant disrupts the p.Cys39 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12827452, 18500671, 19504351, 19543972, 21990134, 23683081). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jul 31, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000688318.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces cysteine with tyrosine at codon 39 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces cysteine with tyrosine at codon 39 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have reported that this variant impacts BRCA1 function in homology-directed DNA repair, ubiquitin E3 ligase, haploid cell proliferation, centrosome duplication and yeast colony size assays (PMID: 11320250, 20103620, 21725363, 23161852, 25823446, 27272900, 30209399). This variant has been detected in at least eight individuals affected with breast and/or ovarian cancer and additional suspected hereditary breast and ovarian cancer families (PMID: 9808526, 22752604, 22923021, 26852130, 32894085). Other missense substitutions at this codon to serine, arginine, glycine, phenylalanine and tryptophan also have been reported as disease-causing in ClinVar (variation ID 37393, 54151, 54152, 54153, 267497, 867499). This variant has been identified in 1/31396 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Oct 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001249218.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 1
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Uncertain significance
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144352.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Geographic origin: Italy
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553534.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: research
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Malignant tumor of urinary bladder
Affected status: yes
Allele origin:
somatic
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Laboratory of Urology, Hospital Clinic de Barcelona
Accession: SCV004040525.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Pathogenic
(Dec 11, 2006)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053564.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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Likely pathogenic
(Dec 17, 2015)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587014.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
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Pathogenic
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004244195.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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not provided
(-)
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no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
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Brotman Baty Institute, University of Washington
Accession: SCV001241902.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-2.65823961350783
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_abnormal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001241902.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.116G>A, a MISSENSE variant, produced a function score of -2.66, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.116G>A, a MISSENSE variant, produced a function score of -2.66, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance. | Lyra PCM Jr | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 | PMID: 33087888 |
Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco. | Bakkach J | BMC cancer | 2020 | PMID: 32894085 |
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer? | Nguyen-Dumont T | Genetics research | 2020 | PMID: 32772980 |
Population genetic screening efficiently identifies carriers of autosomal dominant diseases. | Grzymski JJ | Nature medicine | 2020 | PMID: 32719484 |
Cancer Susceptibility Mutations in Patients With Urothelial Malignancies. | Carlo MI | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2020 | PMID: 31794323 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. | Li A | Gynecologic oncology | 2018 | PMID: 30078507 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia. | Wen WX | Journal of medical genetics | 2018 | PMID: 28993434 |
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. | Thouvenot P | PLoS genetics | 2016 | PMID: 27272900 |
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. | Cini G | BMC medical genetics | 2016 | PMID: 26852130 |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. | Starita LM | Genetics | 2015 | PMID: 25823446 |
Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening. | Krajc M | Clinical genetics | 2014 | PMID: 23397983 |
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). | Blay P | BMC cancer | 2013 | PMID: 23683081 |
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. | Towler WI | Human mutation | 2013 | PMID: 23161852 |
Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. | Novaković S | International journal of oncology | 2012 | PMID: 22923021 |
BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity. | Juwle A | Medical oncology (Northwood, London, England) | 2012 | PMID: 22752604 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
Functional differences among BRCA1 missense mutations in the control of centrosome duplication. | Kais Z | Oncogene | 2012 | PMID: 21725363 |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. | Millot GA | Human mutation | 2011 | PMID: 21922593 |
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. | Stegel V | BMC medical genetics | 2011 | PMID: 21232165 |
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. | Konecny M | Breast cancer research and treatment | 2011 | PMID: 21203900 |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. | Ransburgh DJ | Cancer research | 2010 | PMID: 20103620 |
Characterization of BRCA1 ring finger variants of uncertain significance. | Sweet K | Breast cancer research and treatment | 2010 | PMID: 19543972 |
A common Greenlandic Inuit BRCA1 RING domain founder mutation. | Hansen TV | Breast cancer research and treatment | 2009 | PMID: 18500671 |
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. | Machackova E | BMC cancer | 2008 | PMID: 18489799 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer. | Rostagno P | Journal of human genetics | 2003 | PMID: 12827452 |
Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. | Ruffner H | Proceedings of the National Academy of Sciences of the United States of America | 2001 | PMID: 11320250 |
Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer. | Santarosa M | International journal of cancer | 1998 | PMID: 9808526 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
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Text-mined citations for rs80357498 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.