Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines

[cujoe]

Key Points

Question What is the germline mutational landscape in unselected patients with prostate cancer, and do guidelines for genetic testing adequately identify patients at risk for aggressive disease?

Findings This cross-sectional study of 3607 men with a personal history of prostate cancer found that 620 (17.2%) had a pathogenic germline variant, of which 229 (37%) did not qualify (at time of testing) for genetic testing per National Comprehensive Cancer Network recommendations.

Meaning National Comprehensive Cancer Network guidelines and Gleason scores are not reliable for stratifying patients with prostate cancer for the presence or absence of pathogenic germline variants; simplification and expansion of testing guidelines will improve medical management of these patients.

Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines

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