Coding Variants of the Genitourinary Development Gene

• Tác giả: William D Dupont, Angela L Jones, Jeffrey R Smith
• Ngôn ngữ: eng
• Ký hiệu phân loại: 011.373 *Video recordings
• Thông tin xuất bản: United States : JCO precision oncology , 2025
• Bộ sưu tập: NCBI
• ID: 397391

Tóm tắt

PURPOSE: Considerable genetic heterogeneity is currently thought to underlie hereditary prostate cancer (HPC). Most families meeting criteria for HPC cannot be attributed to currently known pathogenic variants. METHODS: To discover pathogenic variants predisposing to prostate cancer, we conducted a familial case-control association study using both genome-wide single-allele and identity-by-descent analytic approaches. Sequence of high-risk haplotype carriers was used for variant detection. Candidate pathogenic variants were tested for association with prostate cancer across independent biobanks for replication of observations. RESULTS: Pathogenic variants within