Untangling BRCA mutations, sex hormones, and cancer risk : The Lancet Oncology

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Understanding basic disease mechanisms might allow development of novel strategies for the primary prevention of breast and ovarian cancer. For carriers of BRCA1/2 mutations, options for primary prevention are limited to bilateral salpingo-oophorectomy and prophylactic mastectomy. In The Lancet Oncology, Martin Widschwendter and colleagues1 compare ovarian and endometrial function in carriers of the BRCA1/2 mutation with high-risk, mutation negative women in the UK Familial Ovarian Cancer Screening Study. BRCA1/2 mutations are thought to cause cancer via a defect in DNA damage response or in the DNA repair pathway, but this does not explain organ-specific cancer penetrance. These novel data suggest that end-organ response might have a role.....