Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue

摘要: BRCA1/2 variant analysis in tumor tissue could streamline the referral of patients with epithelial ovarian, fallopian tube, or primary peritoneal cancer to genetic counselors and select who benefit most from targeted treatment. We investigated sensitivity formalin-fixed, paraffin-embedded using a combination next-generation sequencing copy number multiplex ligation-dependent probe amplification. After optimization training cohort known mutation carriers, validation was performed prospective which screening DNA leukocyte germline parallel. BRCA1 promoter hypermethylation pedigree were also performed. In cohort, 45 46 variants detected (sensitivity, 98%). (n = 62), all six identified 100%), together five somatic eight cases hypermethylation. four variant–negative patients, surveillance prophylactic management options offered on basis positive family histories. conclude that reliably detects variants. When taking history into account, allows more efficient selection ovarian for counseling simultaneously selects