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

Jacob E Berchuck,Daniel Boiarsky,Rebecca Silver,Rajitha Sunkara,Heather M McClure,Harrison K Tsai,Stephanie Siegmund,Alok K Tewari,Jonathan A Nowak,Neal I Lindeman,Huma Q Rana,Atish D Choudhury,Mark M Pomerantz,Matthew L Freedman,Eliezer M Van Allen,Mary-Ellen Taplin

JCO precision oncology（2022）

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摘要

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.

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