Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

摘要: BACKGROUND Genetic testing has been conducted in patients with prostate cancer (PCa) using multigene panels, but no centralized guidelines for genetic exist. To overcome this limitation, we investigated the demographic and clinical characteristics of pathogenic variants. METHODS We sequenced eight genes associated hereditary PCa 7636 unselected Japanese 12 366 male, cancer-free control individuals. assigned significance all 1456 variants American College Medical Genetics Genomics ClinVar. compared frequency carriers bearing between cases participants calculated risk each gene documented All statistical tests were two-sided. RESULTS identified 136 variants, 2.9% 0.8% individuals had a variant. Association was statistically significant BRCA2 (P < .001, odds ratio [OR] = 5.65, 95% confidence interval [CI] 3.55 to 9.32), HOXB13 OR 4.73, CI 2.84 8.19), ATM 2.86, 1.63 5.15). detected recurrent new such as p.Gly132Glu HOXB13. Patients 2.0 years younger at diagnosis more often smoking alcohol drinking histories well family breast, pancreatic, lung, liver cancers. CONCLUSIONS This largest sequencing study heredity provides additional evidence supporting latest consensus among clinicians developing PCa.