Addition of Germline Testing to Tumor-Only Sequencing Improves Detection of Pathogenic Germline Variants in Men With Advanced Prostate Cancer.

Jacob E BerchuckDaniel BoiarskyRebecca SilverRajitha SunkaraHeather M McClureHarrison K TsaiStephanie E Siegmund Alok K Tewari Jonathan Andrew NowakNeal I LindemanHuma Q Rana Atish D ChoudhuryMark M PomerantzMatthew L Freedman Eliezer Van AllenMary-Ellen Taplin

Published in: JCO precision oncology (2022)

Tumor-only sequencing failed to report more than 20% of PGVs in men with advanced PCa. These findings strongly support guideline recommendations for universal germline and somatic testing in this population. Combining tumor and germline sequencing doubled the chance of detecting a clinically actionable alteration.

Keyphrases

prostate cancer
dna repair
single cell
gene expression
oxidative stress