Contents

Search

BRCA gene mutation (BRACAnalysis CDx)

also see BRCA1/BRCA2 genotyping Complications: - risk for ovarian cancer, breast cancer & uterine cancer (endometrial cancer) - cumulative risk for breast cancer by age 80 - 72% in BRCA1 carriers & 69% in BRCA2 carriers - cumulative risk for ovarian cancer by age 80 - 44% in BRCA1 carriers & 17% in BRCA2 carriers [2] - 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: - BRACAnalysis CDx FDA approved to establish indication for olaparib (Lynparza)

Related

BRCA1/BRCA2 genotyping

Specific

BRCA1 gene mutation BRCA1/BRCA2 gene mutation positive BRCA2 gene mutation

General

gene mutation testing; gene mutation analysis

References

  1. Shu CA et al Uterine cancer after risk-reducing salpingo-oophorectomy without hysterectomy in women with BRCA mutations. JAMA Oncol 2016 Jun 30 PMID: 27367496 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 PMID: 27367041 http://oncology.jamanetwork.com/article.aspx?articleid=2531467
  2. 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. PMID: 28632866 http://jamanetwork.com/journals/jama/article-abstract/2632503
  3. 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. PMID: 29337092 Free PMC Article 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 PMID: 29337093 Free Article http://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(18)30008-1/fulltext
  4. 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: 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: 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: 31434110 https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2748329
  5. Ontario Family History Assessment Tool https://www.timeofcare.com/ontario-family-history-assessment-tool/