Gene:
BRCA1
breast cancer 1, early onset

PharmGKB contains no dosing guidelines for this gene. To report known dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.

PharmGKB contains no clinical annotations for this gene. To report clinical variants, click here.

PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(build 132)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
VIP No Clinical Annotations available No Variant Annotations available
chr17:41276046
VIP No Clinical Annotations available No Variant Annotations available
chr17:41209080
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP build 132

Overview

Alternate Names:  BRCA1/BRCA2-containing complex, subunit 1; OTTHUMP00000212147; OTTHUMP00000212148; OTTHUMP00000212149; OTTHUMP00000212150; OTTHUMP00000212151; OTTHUMP00000212155; RING finger protein 53; breast and ovarian cancer susceptibility protein 1; breast and ovarian cancer sususceptibility protein; breast cancer type 1 susceptibility protein; breast-ovarian cancer, included
Alternate Symbols:  BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PSCP; RNF53
Haplotypes: BRCA1 1; BRCA1 1#; BRCA1 2; BRCA1 2#; BRCA1 3; BRCA1 3#; BRCA1 4; BRCA1 4#; BRCA1 5; BRCA1 5#; BRCA1 6; BRCA1 7; BRCA1 8; BRCA1 9; BRCA1 10
PharmGKB Accession Id: PA25411

Details

Cytogenetic Location: chr17 : q21.31 - q21.31
GP mRNA Boundary: chr17 : 41196314 - 41277468
GP Gene Boundary: chr17 : 41193314 - 41287468
Strand: minus
Product Name: No data available
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

All alleles are displayed on the positive chromosomal strand.

Download Haplotype Data (CSV)

Haplotype rs1060915 rs12516 rs16940 rs16941 rs16942 rs17599948 rs1799949 rs1799966 rs3092995 rs4986850 rs4986852 rs799912 rs799917 rs8176318 rs9908805 rs9911630
BRCA1 1 A G A T T A G T C C C C G C T G
BRCA1 1# G G A T T A G T C C C C G C T G
BRCA1 2 G G G C C A A C C C C C A C T G
BRCA1 2# G G A T T G G T C C C C G C T G
BRCA1 3 G G A T T A G C C C C C G C T G
BRCA1 3# G G A T T A G T C C C C G A T G
BRCA1 4 A G A T T A G T C C C C G C T G
BRCA1 4# G G A T T G G T C C C C G A T G
BRCA1 5 A G A T T A G T C C T C G C T G
BRCA1 5# G A A T T G G T C C C T G A T G
BRCA1 6 G G G C C A A C C T C C A C T G
BRCA1 7 G G G C C A A C C T C C A C T G
BRCA1 8 A G A T T A G T C C C C A C T G
BRCA1 9 A G A T C A A C C C C C A C T G
BRCA1 10 G G A C T A G C C C C C G C T G
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
tamoxifen

Curated Information ?

Publications related to BRCA1: 55

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetic tests in cancer chemotherapy: what physicians should know for clinical application. The Journal of pathology. 2011. Lee Soo-Youn, et al. [Article:20818641@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRCA1 185delAG mutant protein, BRAt, up-regulates maspin in ovarian epithelial cells. Gynecologic oncology. 2010. O'Donnell Joshua D, et al. [Article:19906413@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer. The pharmacogenomics journal. 2010. Ho-Pun-Cheung A, et al. [Article:20644561@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Trastuzumab and beyond: sequencing cancer genomes and predicting molecular networks. The pharmacogenomics journal. 2010. Roukos D H. [Article:20975737@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women. Journal of medical genetics. 2009. Chan K Y-K, et al. [Article:18782836@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. American journal of human genetics. 2008. Antoniou Antonis C, et al. [Article:18355772@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Identification of susceptibility genes for cancer in a genome-wide scan: results from the colon neoplasia sibling study. American journal of human genetics. 2008. Daley Denise, et al. [Article:18313025@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. American journal of human genetics. 2007. Antoniou Antonis C, et al. [Article:17999359@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The CYP1A2 genotype modifies the association between coffee consumption and breast cancer risk among BRCA1 mutation carriers. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2007. Kotsopoulos Joanne, et al. [Article:17507615@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. Human mutation. 2007. Ramus Susan J, et al. [Article:17688236@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. Journal of medical genetics. 2007. Simard Jacques, et al. [Article:16905680@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Network modeling links breast cancer susceptibility and centrosome dysfunction. Nature genetics. 2007. Pujana Miguel Angel, et al. [Article:17922014@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. The New England journal of medicine. 2007. Rennert Gad, et al. [Article:17625123@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation. American journal of human genetics. 2006. Weber Frank, et al. [Article:16685647@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
BRCA1-associated complexes: new targets to overcome breast cancer radiation resistance. Expert review of anticancer therapy. 2006. Chen Xiaowei, et al. [Article:16445371@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers. International journal of cancer. Journal international du cancer. 2006. Nkondjock André, et al. [Article:16032702@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. International journal of cancer. Journal international du cancer. 2006. Gronwald Jacek, et al. [Article:16331614@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2006. Pierce Lori J, et al. [Article:16636335@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Prevention of Brca1-mediated mammary tumorigenesis in mice by a progesterone antagonist. Science (New York, N.Y.). 2006. Poole Aleksandra Jovanovic, et al. [Article:17138902@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The consensus coding sequences of human breast and colorectal cancers. Science (New York, N.Y.). 2006. Sjöblom Tobias, et al. [Article:16959974@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2005. Weitzel Jeffrey N, et al. [Article:16030099@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. Mutation research. 2005. Judkins Thaddeus, et al. [Article:15829246@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Genetic epidemiology of BRCA1. Cancer biology & therapy. 2004. Couch Fergus J. [Article:15254414@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Understanding germ-line mutations in BRCA1. Cancer biology & therapy. 2004. Szabo Csilla I, et al. [Article:15254424@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Hereditary breast cancer in Jews. Familial cancer. 2004. Rubinstein Wendy S. [Article:15516849@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Hereditary ovarian cancer in Ashkenazi Jews. Familial cancer. 2004. Robles-Díaz Luis, et al. [Article:15516850@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2004. Metcalfe Kelly, et al. [Article:15197194@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome research. 2002. Bonnen Penelope E, et al. [Article:12466288@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2002. Frank Thomas S, et al. [Article:11896095@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Cancer Incidence in BRCA1 mutation carriers. Journal of the National Cancer Institute. 2002. Thompson Deborah, et al. [Article:12237281@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. Journal of the National Cancer Institute. 2002. Brose Marcia S, et al. [Article:12237282@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data. Cancer. 2001. Bahar A Y, et al. [Article:11466700@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
BRCA1 promoter region hypermethylation in ovarian carcinoma: a population-based study. Cancer research. 2000. Baldwin R L, et al. [Article:11034065@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet. 2000. Narod S A, et al. [Article:11130383@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics. Oncogene. 1999. Catteau A, et al. [Article:10208417@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group. American journal of human genetics. 1997. Stoppa-Lyonnet D, et al. [Article:9150149@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Population genetics of BRCA1 and BRCA2. American journal of human genetics. 1997. Szabo C I, et al. [Article:9150148@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
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. American journal of human genetics. 1997. Abeliovich D, et al. [Article:9042909@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA : the journal of the American Medical Association. 1997. Shattuck-Eidens D, et al. [Article:9333265@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. The New England journal of medicine. 1997. Struewing J P, et al. [Article:9145676@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. American journal of human genetics. 1996. Neuhausen S L, et al. [Article:8571953@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. American journal of human genetics. 1996. Berman D B, et al. [Article:8651293@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nature genetics. 1996. Roa B B, et al. [Article:8841191@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nature medicine. 1996. Tonin P, et al. [Article:8898735@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRCA1 mutations in Ashkenazi Jewish women. American journal of human genetics. 1995. Tonin P, et al. [Article:7611288@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. American journal of human genetics. 1995. Easton D F, et al. [Article:7825587@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. American journal of human genetics. 1995. Struewing J P, et al. [Article:7611277@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. American journal of human genetics. 1995. Friedman L S, et al. [Article:8533757@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer research. 1995. Takahashi H, et al. [Article:7606717@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA : the journal of the American Medical Association. 1995. Shattuck-Eidens D, et al. [Article:7837387@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature genetics. 1995. Struewing J P, et al. [Article:7550349@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nature genetics. 1994. Simard J, et al. [Article:7894492@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (New York, N.Y.). 1994. Miki Y, et al. [Article:7545954@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. American journal of human genetics. 1993. Easton D F, et al. [Article:8460634@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
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