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Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells.

Konishi H, Mohseni M, Tamaki A, Garay JP, Croessmann S, Karnan S, Ota A, Wong HY, Konishi Y, Karakas B, Tahir K, Abukhdeir AM, Gustin JP, Cidado J, Wang GM, Cosgrove D, Cochran R, Jelovac D, Higgins MJ, Arena S, Hawkins L, Lauring J, Gross AL, Heaphy CM, Hosokawa Y, Gabrielson E, Meeker AK, Visvanathan K, Argani P, Bachman KE, Park BH.

Proc Natl Acad Sci U S A. 2011 Oct 25;108(43):17773-8. doi: 10.1073/pnas.1110969108. Epub 2011 Oct 10.


BRCA1 haploinsufficiency: consequences for breast cancer.

Salmena L, Narod S.

Womens Health (Lond Engl). 2012 Mar;8(2):127-9. doi: 10.2217/whe.12.2.


Genomic alterations in histopathologically normal breast tissue from BRCA1 mutation carriers may be caused by BRCA1 haploinsufficiency.

Rennstam K, Ringberg A, Cunliffe HE, Olsson H, Landberg G, Hedenfalk I.

Genes Chromosomes Cancer. 2010 Jan;49(1):78-90. doi: 10.1002/gcc.20723. Erratum in: Genes Chromosomes Cancer. 2010 Aug;49(8):760-1.


Loss of p53 partially rescues embryonic development of Palb2 knockout mice but does not foster haploinsufficiency of Palb2 in tumour suppression.

Bouwman P, Drost R, Klijn C, Pieterse M, van der Gulden H, Song JY, Szuhai K, Jonkers J.

J Pathol. 2011 May;224(1):10-21. doi: 10.1002/path.2861. Epub 2011 Mar 14.


Induction of ovarian leiomyosarcomas in mice by conditional inactivation of Brca1 and p53.

Quinn BA, Brake T, Hua X, Baxter-Jones K, Litwin S, Ellenson LH, Connolly DC.

PLoS One. 2009 Dec 31;4(12):e8404. doi: 10.1371/journal.pone.0008404.


Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer.

Birgisdottir V, Stefansson OA, Bodvarsdottir SK, Hilmarsdottir H, Jonasson JG, Eyfjord JE.

Breast Cancer Res. 2006;8(4):R38.


Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A.

Mote PA, Leary JA, Avery KA, Sandelin K, Chenevix-Trench G, Kirk JA, Clarke CL; kConFab Investigators.

Genes Chromosomes Cancer. 2004 Mar;39(3):236-48.


Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes.

Stefansson OA, Jonasson JG, Johannsson OT, Olafsdottir K, Steinarsdottir M, Valgeirsdottir S, Eyfjord JE.

Breast Cancer Res. 2009;11(4):R47. doi: 10.1186/bcr2334. Epub 2009 Jul 9. Erratum in: Breast Cancer Res. 2009;11(5):404.


Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence.

Sedic M, Skibinski A, Brown N, Gallardo M, Mulligan P, Martinez P, Keller PJ, Glover E, Richardson AL, Cowan J, Toland AE, Ravichandran K, Riethman H, Naber SP, Näär AM, Blasco MA, Hinds PW, Kuperwasser C.

Nat Commun. 2015 Jun 24;6:7505. doi: 10.1038/ncomms8505.


[A paradox and three egnimas about the role of BRCA1 in breast and ovarian cancers].

Feunteun J.

J Soc Biol. 2004;198(2):123-6. Review. French.


Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India.

Hedau S, Jain N, Husain SA, Mandal AK, Ray G, Shahid M, Kant R, Gupta V, Shukla NK, Deo SS, Das BC.

Breast Cancer Res Treat. 2004 Nov;88(2):177-86.


Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa.

Staff S, Isola JJ, Johannsson O, Borg A, Tanner MM.

Br J Cancer. 2001 Oct 19;85(8):1201-5.


Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.

Lose F, Duffy DL, Kay GF, Kedda MA, Spurdle AB; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Australian Ovarian Cancer Study Management Group.

J Natl Cancer Inst. 2008 Nov 5;100(21):1519-29. doi: 10.1093/jnci/djn345. Epub 2008 Oct 28.


Multiple copies of mutant BRCA1 and BRCA2 alleles in breast tumors from germ-line mutation carriers.

Staff S, Nupponen NN, Borg A, Isola JJ, Tanner MM.

Genes Chromosomes Cancer. 2000 Aug;28(4):432-42.


Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers.

De Brakeleer S, Bogdani M, De Grève J, Decock J, Sermijn E, Bonduelle M, Goelen G, Teugels E.

Mutat Res. 2007 Jun 1;619(1-2):104-12. Epub 2007 Mar 12.


Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis.

Xu X, Qiao W, Linke SP, Cao L, Li WM, Furth PA, Harris CC, Deng CX.

Nat Genet. 2001 Jul;28(3):266-71.


Somatic loss of BRCA1 and p53 in mice induces mammary tumors with features of human BRCA1-mutated basal-like breast cancer.

Liu X, Holstege H, van der Gulden H, Treur-Mulder M, Zevenhoven J, Velds A, Kerkhoven RM, van Vliet MH, Wessels LF, Peterse JL, Berns A, Jonkers J.

Proc Natl Acad Sci U S A. 2007 Jul 17;104(29):12111-6. Epub 2007 Jul 11.


Brca1 heterozygous mice have shortened life span and are prone to ovarian tumorigenesis with haploinsufficiency upon ionizing irradiation.

Jeng YM, Cai-Ng S, Li A, Furuta S, Chew H, Chen PL, Lee EY, Lee WH.

Oncogene. 2007 Sep 13;26(42):6160-6. Epub 2007 Apr 9.


Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes.

Latimer JJ, Rubinstein WS, Johnson JM, Kanbour-Shakir A, Vogel VG, Grant SG.

BMC Med Genet. 2005 Jun 14;6:26.

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