Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines
JAMA Feb 14, 2019
Nicolosi P, et al. - In this cross-sectional study, 3607 males with a personal history of prostate cancer were studied to identify the positive (pathogenic, likely pathogenic, and increased risk) germline variants and also to assess the value of National Comprehensive Cancer Network (NCCN) guidelines in recognizing patient at increased risk for prostate cancer who would benefit from diagnostic genetic testing. They observed 17.2% with positive germline variants, of which only 30.7% were variants in BRCA1/2. Using the NCCN genetic/familial breast and ovarian guidelines for cases with prostate cancer, they implied 37% candidates (self-reported family histories) with positive variants would not have been approved for genetic testing.
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