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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 Singer
Published 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.
Keyphrases
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • newly diagnosed
  • prognostic factors
  • magnetic resonance
  • patient reported outcomes
  • gene expression
  • dna methylation
  • oxidative stress