 Summary Information
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Location: 17q21
Overview:
BRCA1 is a breast cancer susceptibility gene that was first identified in 1994. People carrying a mutation (abnormality) in this gene are at an
increased risk of breast or ovarian cancer. The normal gene plays a role in repairing breaks in DNA. However, when the gene is mutated it is thought that this repair function may become disabled thus leading to more DNA replication errors and cancerous
growth.
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| Gene Database Entries for BRCA1
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OMIM
GeneCard (Weizmann Institute)
Human Gene Mutation Database (Cardiff, UK)
Tumor Gene Database
Swiss-Prot
Locus Link
UniGene
GenAtlas
GDB
Nomenclature (search for BRCA1)
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| Other Related Resources
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Breast Cancer and the BRCA1 Gene (NCI, NIH)
BRCA1 and BRCA2 Hereditary Breast Cancer (University of Washington) part of the NCI funded Geneclinics.org site. Details of BRCA1 and BRCA2 breast cancer, risk assessment, diagnosis, management, molecular biology, genetic counseling, resources, references etc
BRCA1 / BRCA2 in Breast and Ovarian Cancer (National Center for Biotechnology Information) an overview of the BRCA1 and BRCA2 genes with links to other gene databases.
CancerGene - computer program (University of Texas / Duke University) for health professionals: a computer program for estimating the likelihood that a family carries a mutation in one of the cancer predisposition genes BRCA1, BRCA2, MSH2 or MLH1
 Breast Cancer Resources
Ovarian Cancer Resources
BRCA2 gene (13q12.3)
Medline Search: BRCA1 (PubMed)
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- Medline Search: cancer AND gene AND BRCA1[TI] (PubMed)
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| Hereditary Breast and Ovarian Cancer Syndromes
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Gayther SA. et al. The Contribution of Germline BRCA1 and BRCA2 Mutations to Familial Ovarian Cancer: No Evidence for Other Ovarian Cancer-Susceptibility Genes. Am J Hum Genet 1999; 65:1021-1029 Related articles (PubMed)
Ganguly A. et al. Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations. Genet Test 1997; 1:85-90 Related articles (PubMed)
Lallas TA. et al. BRCA1 mutations in familial ovarian cancer. Mol Genet Metab 1999; 67:357-63 Related articles (PubMed)
Medline Search: brca2 AND familial cancer (PubMed)
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Ovarian Ca. Genetics
Ovarian Ca. : Clinical and Epidemiological Information
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| BRCA1 Screening
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Arver B. et al. BRCA1 screening in patients with a family history of breast or ovarian cancer. Genet Test 1999; 3:223-6 Related articles (PubMed)
Goelen G. et al. Moral concerns of different types of patients in clinical BRCA1/2 gene mutation testing. J Clin Oncol 1999; 17:1595-600 Related articles (PubMed)
Medline Search: BRCA1 and screening (PubMed)
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Breast Cancer Genetics
Breast Cancer : Clinical and Epidemiological Information
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| BRCA1 and Genetic Counselling
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Carter CL. et al. Psychological issues in genetic testing for breast cancer. Women Health. 1999; 28:73-91. (Review) Related articles (PubMed)
Audrain J. et al. Psychological distress in women seeking genetic counseling for breast-ovarian cancer risk: the contributions of personality and appraisal. Ann Behav Med 1998l; 19:370-7 Related articles (PubMed)
Medline Search: BRCA1 AND genetic councelling (PubMed)
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| BRCA1 Functions and Carcinogenesis
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Bochar DA, et al. BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer. Cell 2000 Jul 21;102(2):257-65 Related articles (PubMed)
Thangaraju M, et al. BRCA1 Facilitates Stress-Induced Apoptosis in Breast and Ovarian Cancer Cell Lines. J Biol Chem 2000 Aug 10; Related articles (PubMed)
Irminger-Finger I, et al. The functions of breast cancer susceptibility gene 1 (BRCA1) product and its associated proteins. Biol Chem 1999 Feb;380(2):117-28 Related articles (PubMed)
Zhang H, et al. BRCA1 physically associates with p53 and stimulates its transcriptional activity. Oncogene 1998 Apr 2;16(13):1713-21 Related articles (PubMed)
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| BRCA1 and Breast Cancer
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Malone KE, et al. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer 2000;88(6):1393-1402 Related articles (PubMed)
Ganguly A. et al. Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations. Genet Test 1997; 1:85-90 Related articles (PubMed)
Medline Search: BRCA1 AND breast cancer (PubMed)
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- BRCA2 gene
Breast Cancer Genetics
Breast Cancer : Clinical and Epidemiological Information
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| Prophylactic Treatments for Women with BRAC1 mutations
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Lu KH, et al. Occult Ovarian Tumors in Women With BRCA1 or BRCA2 Mutations Undergoing Prophylactic Oophorectomy J Clin Oncol 2000: 18:2728-2732
Eisen A, et al. Prophylactic Surgery in Women With a Hereditary Predisposition to Breast and Ovarian Cancer. [Review] J Clin Oncol 2000 May 9;18(9):1980-1995 Related articles (PubMed)
Schrag D, et al. Life expectancy gains from cancer prevention strategies for women with breast cancer and BRCA1 or BRCA2 mutations. JAMA 2000; 283(5):617-24 Related articles (PubMed)
Schrag D, et al. Decision analysis--effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations. N Engl J Med 1997; 336(20):1465-71 Related articles (PubMed)
Medline Search: BRCA1 AND prophylactic treatment (PubMed)
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| BRCA1 and Ovarian Cancer
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Boyd J, et al. Clinicopathologic Features of BRCA-Linked and Sporadic Ovarian Cancer JAMA. 2000;283:2260-2265
Takahashi H. et al. Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Res 1996; 56:2738-41 Related articles (PubMed)
Medline Search: BRCA1 AND ovarian cancer (PubMed)
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- BRCA2 gene
Ovarian Ca. Genetics
Ovarian Ca. : Clinical and Epidemiological Information
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| TP53 Mutations in BRCA1/BRCA2 Ovarian Cancers
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Ramus SJ, et al. Increased frequency of TP53 mutations in BRCA1 and BRCA2 ovarian tumours Genes Chromosomes Cancer. 1999; 25(2):91-6 Related articles (PubMed)
Crook T, et al. p53 mutation with frequent novel condons but not a mutator phenotype in BRCA1- and BRCA2-associated breast tumours Oncogene. 1998; 17(13):1681-9 Related articles (PubMed)
Medline Search: TP53 AND ovarian cancer AND (BRCA1 OR BRCA2) (PubMed)
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Ovarian Ca. Genetics
Ovarian Ca. : Clinical and Epidemiological Information
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| BRCA1 - Somatic mutations
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Khoo US. et al. Somatic mutations in the BRCA1 gene in chinese sporadic breast and ovarian cancer. Oncogene 1999; 18:4643-6 Related articles (PubMed)
Merajver SD. et al. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat Genet 1995; 9:439-43 Related articles (PubMed)
Tong D, et al. BRCA1 gene mutations in sporadic ovarian carcinomas: detection by PCR and reverse allele-specific oligonucleotide hybridization. Clin Chem. 1999; 45:976-81 Related articles (PubMed)
Medline Search: BRCA1 AND (somatic OR sporadic) (PubMed)
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| BRCA1 Mutations
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| 185delAG Mutations
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Abeliovich D, et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997; 60:505-14 Related articles (PubMed)
Bar-Sade RB et al. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum Mol Genet 1998; 7:801-5 Related articles (PubMed)
Muto MG et al. Frequency of the BRCA1 185delAG mutation among Jewish women with ovarian cancer and matched population controls. Cancer Res 1996; 56(1250-2 Related articles (PubMed)
Medline Search: 185delAG AND BRCA1 (PubMed)
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| 5382InsC Mutations
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Abeliovich D, et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997; 60:505-14 Related articles (PubMed)
Medline Search: 5382InsC AND BRCA1 (PubMed)
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| BRCA1 and Colon Cancer Risk
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Lin KM et al. Colorectal cancer in hereditary breast cancer kindreds. Dis Colon Rectum 1999; 42:1041-5 Related articles (PubMed)
Garcia-Patino E. et al. Loss of heterozygosity in the region including the BRCA1 gene on 17q in colon cancer. Cancer Genet Cytogenet 1998; 104:119-23 Related articles (PubMed)
Medline Search: BRCA1 AND colon cancer (PubMed)
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| BRCA1 and Fallopian Tube Carcinoma
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Zweemer RP, et al. Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations. Gynecol Oncol 2000;76(1):45-50 Related articles (PubMed)
Medline Search: fallopean tube cancer AND brca1 (PubMed)
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Fallopian Tube ca. : Clinical and Epidemiological Information
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[Home] This page created: 09/10/1999 Last revised: 29/04/2003 © Copyright 1999-
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