BRCA gene mutation (BRACAnalysis CDx)
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Introduction
also see BRCA1/BRCA2 genotyping
Complications
- risk for ovarian cancer, breast cancer & uterine cancer (endometrial cancer)
- cumulative risk for breast cancer by age 80
- cumulative risk for ovarian cancer by age 80
- overall survival in women with breast cancer at 2, 5, & 10 years is similar between BRCA carriers & noncarriers[3]
Management
- primary care assessment for at-risk women with brief familial risk assessment tool[4][5]
- bilateral salpingo-oophorectomy with hysterectomy[1]
- optimally performed before age 40 years
- hormone replacement therapy may mitigate menopausal symptoms & excess risk for osteoporosis[1]
Notes
More general terms
More specific terms
Additional terms
References
- ↑ 1.0 1.1 1.2 Shu CA et al Uterine cancer after risk-reducing salpingo-oophorectomy without hysterectomy in women with BRCA mutations. JAMA Oncol 2016 Jun 30 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/27367496 <Internet> http://oncology.jamanetwork.com/article.aspx?articleid=2531470
Leath CA et al. Drawing the line in risk-reducing gynecologic surgery in women with a BRCA mutation. JAMA Oncol 2016 Jun 30 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/27367041 <Internet> http://oncology.jamanetwork.com/article.aspx?articleid=2531467 - ↑ 2.0 2.1 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
- ↑ 3.0 3.1 Copson ER, Maishman TC, Tapper WJ, et al. Germline BRCA mutation and outcome in young-onset breast cancer (POSH): A prospective cohort study. Lancet Oncol 2018 Feb; 19:169. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29337092 Free PMC Article <Internet> http://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(17)30891-4/fulltext
Fasching PA. Breast cancer in young women: Do BRCA1 or BRCA2 mutations matter? Lancet Oncol 2018 Feb; 19:150 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29337093 Free Article <Internet> http://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(18)30008-1/fulltext - ↑ 4.0 4.1 US Preventive Services Task Force Recommendation Statement. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer. US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322(7):652-665. August 20, 2019 PMID: https://www.ncbi.nlm.nih.gov/pubmed/31429903 https://jamanetwork.com/journals/jama/fullarticle/2748515
Nelson HD, Pappas M, Cantor A et al Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in WomenUpdated Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA. 2019;322(7):666-685. Aug 20, 2019 PMID: https://www.ncbi.nlm.nih.gov/pubmed/31429902 https://jamanetwork.com/journals/jama/fullarticle/2748514
Rajagopal PS, Nielsen S, Olopade OI USPSTF Recommendations for BRCA1 and BRCA2 Testing in the Context of a Transformative National Cancer Control Plan. JAMA Netw Open. 2019;2(8.10):e1910142 PMID: https://www.ncbi.nlm.nih.gov/pubmed/31434110 https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2748329 - ↑ 5.0 5.1 Ontario Family History Assessment Tool https://www.timeofcare.com/ontario-family-history-assessment-tool/