Rare germline genetic variants and risk of aggressive prostate cancer.
作者： Tú Nguyen‐Dumont , Robert J. MacInnis , Jason A. Steen , Derrick Theys , Helen Tsimiklis
DOI: 10.1002/IJC.33024
关键词: Disease 、 Prostate-specific antigen 、 Germline mutation 、 Genetic testing 、 Oncology 、 Context (language use) 、 Internal medicine 、 Genotype 、 Prostate cancer 、 Medicine 、 Genetic variation
摘要: Few genetic risk factors have been demonstrated to be specifically associated with aggressive prostate cancer (PrCa). Here, we report a case-case study of PrCa comparing the prevalence germline pathogenic/likely pathogenic (P/LP) variants in 787 men disease and 769 nonaggressive disease. Overall, observed P/LP 11.4% 9.8% (two-tailed Fisher's exact tests, P = .28). The proportion BRCA2 ATM variant carriers exceeded that PrCa; 18/787 (2.3%) 4/769 (0.5%), .004, 14/787 (0.02%) 5/769 (0.01%), .06, respectively. Our findings contribute extensive international effort interpret variation identified genes included on gene-panel for which there is currently an insufficient evidence-base clinical translation context risk.
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