BRCA1/BRCA2 genotyping
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Genetics
- inheritance is autosomal dominant with incomplete penetrance
Indications
- newly diagnosed breast cancer[1]
- age < 45 years
- family history of breast cancer or ovarian cancer
- triple negative (ER-, PR-, HER2-) < 60 years[1]
- 2 1st-degree relatives with breast cancer, one at <= 50 years of age[1]*
- >= 3 1st- or 2nd-degree relatives with breast cancer
- both breast cancer & ovarian cancer among 1st- or 2nd-degree relatives
- a 1st-degree relative with bilateral breast cancer
- >= 2 1st- or 2nd-degree relatives with ovarian cancer
- a 1st- or second-degree relative with both breast cancer & ovarian cancer
- a male relative with breast cancer
- if of Ashkenazi Jewish heritage, any 1st degree relative or 2 2nd degree relatives on the same side of the family with breast cancer or ovarian cancer[1]*
- women who have relatives with BRCA-related cancers*
- men with high-risk prostate cancer[1]
* USPSTF recommendations
Laboratory
- serum CA-125 every 6 months beginning at age 30 years[1]
Clinical significance
- BRCA-related cancers include:
- cumulative risk for breast cancer by age 80
- cumulative risk for ovarian cancer by age 80
Radiology
- women with BRCA gene mutation should begin breast cancer screening at age 25 with MRI & mammography beginning at age 30 years
- semi-annual tranvaginal ultrasound beginning at age 30 years[1]
Management
- prophylactic bilateral mastectomy reduces risk of breast cancer 90% in women with BRCA gene mutation
- prophylactic bilateral salpingo-oophrectomy at age 35-40 years reduces risk of ovarian cancer 80% in women with BRCA gene mutation
Notes
- most women undergoing BRCA genotyping do not receive counseling from a genetic counselor[3]
More general terms
Additional terms
- BRCA1/BRCA2 gene mutation positive
- breast cancer type 1 susceptibility protein (BRCA1)
- breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein, BRCA2, FACD, FANCD1)
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 19. American College of Physicians, Philadelphia 2012, 2015, 2021
- ↑ Moyer VA et al Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement. Ann Intern Med. Published online 24 December 2013 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/24366376 <Internet> http://annals.org/article.aspx?articleid=1791499
- ↑ 3.0 3.1 Armstrong J et al. Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: The ABOUT study. JAMA Oncol 2015 Oct 1 PMID: https://www.ncbi.nlm.nih.gov/pubmed/26426480
Narod S. Genetic testing for BRCA mutations today and tomorrow - about the ABOUT study. JAMA Oncol 2015 Oct 1; PMID: https://www.ncbi.nlm.nih.gov/pubmed/26426337 - ↑ Malone KE, Begg CB, Haile RW et al Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2. J Clin Oncol. 2010 May 10;28(14):2404-10 PMID: https://www.ncbi.nlm.nih.gov/pubmed/20368571
- ↑ 5.0 5.1 Kuchenbaecker KB, Hopper JL, Barnes DR et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017 Jun 20; 317:2402. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28632866 <Internet> http://jamanetwork.com/journals/jama/article-abstract/2632503
- ↑ U.S. Preventive Services Task Force (USPSTF) Draft Recommendation Statement BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing. https://www.uspreventiveservicestaskforce.org/Page/Document/draft-recommendation-statement/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing1
U.S. Preventive Services Task Force (USPSTF) Draft Evidence Review Draft Evidence Review for BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing https://www.uspreventiveservicestaskforce.org/Page/Document/draft-evidence-review/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing1 - ↑ Breast Cancer Genetics Referral Screening Tool https://www.breastcancergenescreen.org/startScreen.aspx?path=p
Ontario Family History Assessment Tool https://www.timeofcare.com/ontario-family-history-assessment-tool/
Breast Cancer Genetics. Referral Screening Tool https://www.breastcancergenescreen.org/startScreen.aspx