Germline & somatic genetic testing in ovarian cancer patients.

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Abstract

Genetic testing for germline-BRCA1/BRCA2 mutations in epithelial ovarian cancer (EOC) was commissioned by NHS-England in 2015 following the drop in BRCA-testing threshold to 10% carrier probability. EOC BRCA-carriers can benefit from targeted therapy such as poly-ADP-ribose-polymerase inhibitors (PARP-i) which improve survival in recurrent disease. Additionally, downstream predictive/cascade-testing enables unaffected at-risk mutation carriers to access opportunities of screening and chemoprevention (selective-estrogen-receptor-modulators) for breast cancer (BC), or surgical prevention (risk-reducing mastectomy and/or risk-reducing salpingo-oophorectomy) to reduce their BC and/or ovarian cancer (OC) risks. This article is protected by copyright. All rights reserved.