Routine Plasma-Based Genotyping to Comprehensively Detect Germline, Somatic, and Reversion BRCA Mutations among Patients with Advanced Solid Tumors.
Neelima VidulaThereasa A RichOliver SartorJennifer YenAaron I HardinTracy NanceMichael B LillyMohammad Amin NezamiSandip P PatelBenedito A CarneiroAlice C FanAdam M BrufskyBarbara A ParkerBenjamin B BridgesArchana M AgarwalBenjamin L MaughanVictoria M RaymondStephen R FaircloughRichard B LanmanAditya BardiaMassimo CristofanilliPublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2020)
cfDNA NGS identified high rates of therapeutically relevant mutations without foreknowledge of germline or tissue-based testing results, including deleterious somatic BRCA1/2 mutations missed by germline testing and reversion mutations that can have important treatment implications. Further research is needed to confirm clinical utility of these findings to guide precision medicine approaches for patients with advanced malignancies.