BRCA1/BRCA2 gene mutation positive
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Laboratory
Clinical significance
- BRCA1/BRCA2 gene mutation-related cancers include:
Radiology
- women with BRCA gene mutation should begin breast cancer screening at age 25 with MRI & mammography beginning at age 30 years.
Complications
- risk of ovarian cancer 4% between age 35-40 years in women with deleterious BRCA1 mutation[1]
- risk of ovarian cancer 1% between age 35-50 years in women with deleterious BRCA2 mutation[1]
Management
- prophylactic bilateral mastectomy (by age 35 ?)* reduces risk of breast cancer 90% in women with BRCA gene mutation
- prophylactic bilateral salpingo-oophrectomy (BSO) by age 35 reduces risk of ovarian cancer 80% in women with BRCA1 gene mutation
- does not reduce risk of breast cancer[3]
- prophylactic BSO by age 45 for BRCA2 mutation[1]
* age = 35 suggested by analogy to prevention of ovarian cancer
More general terms
More specific terms
Additional terms
- BRCA1/BRCA2 genotyping
- breast cancer type 1 susceptibility protein (BRCA1)
- breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein, BRCA2, FACD, FANCD1)
References
- ↑ Jump up to: 1.0 1.1 1.2 1.3 Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 18. American College of Physicians, Philadelphia 2012, 2015, 2018
- ↑ Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr 10;25(11):1329-33. PMID: https://www.ncbi.nlm.nih.gov/pubmed/17416853
- ↑ Jump up to: 3.0 3.1 Terry MB, Daly MB, Phillips KD et al. Risk-reducing oophorectomy and breast cancer risk across the spectrum of familial risk. J Natl Cancer Inst 2018 Nov 28 Not indexed in PubMed https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djy182/5212812