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Simultaneous germline and somatic sequencing in ovarian carcinoma: Mutation rate and impact on clinical decision-making

Gynecologic Oncology Jan 08, 2020

Jorge S, McFaddin AS, Doll KM, et al. - Given that therapy response in cases with epithelial ovarian, peritoneal or fallopian tube cancer (OC) is predicted by germline and somatic BRCA1 and BRCA2 (BRCA) mutations, yet only germline testing is routinely attempted or reimbursed at diagnosis, so, researchers describe their experience with clinical testing of paired tumor and germline DNA for OC mutations. They retrospectively analyzed the medical data of OC cases tested from 7/2017 to 7/2018. Overall 43 women (36 new diagnoses, seven recurrences) who received the testing were identified. There were pathogenic germline mutations, actionable somatic mutations, and both a somatic and germline mutation in six cases (14%), 15 cases (35%), and in one case (2%), respectively. BRCA mutations were held responsible for 59% of all mutations. Findings revealed simultaneous germline and tumor sequencing as an efficient strategy to afford enhanced information to guide the care of OC patients. With this approach, it is possible to recognize somatic BRCA mutations at diagnosis, which enables clinicians to offer PARP inhibitor maintenance and better outcomes for those patients.
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