Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.
Christine BekosChristoph GrimmMarlene KranawetterStephan PolterauerFelicitas OberndorferYen Yen TanLeonhard MüllauerChristian F SingerPublished in: Journal of personalized medicine (2021)
Tumor testing identified the majority of pathogenic germline BRCA mutations but missed three (2.1%) patients. In contrast, nine (6.4%) patients harboring a somatic BRCA mutation would have been missed by gBRCA testing only.