Identification of Somatically Acquired BRCA1/2 Mutations by cfDNA Analysis in Patients with Metastatic Breast Cancer.
Neelima VidulaTaronish DubashMichael S LawrenceAntoine SimoneauAndrzej NiemierkoErica BlouchBecky NagyWhijae RohBrian ChirnBrittany A ReevesGiuliana MalvarosaJochen K LennerzSteven J IsakoffDejan JuricDouglas S MicalizziSeth WanderLaura SpringBeverly MoyKristen ShannonJerry YoungerRichard B LanmanMehmet TonerA John IafrateGad A GetzLee ZouLeif W EllisenShyamala MaheswaranDaniel A HaberAditya BardiaPublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2020)
Somatic BRCA1/2 mutations are readily detectable in MBC by cfDNA analysis, and may be present as both known germline pathogenic and novel variants.