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Germline Pathogenic Variants Identified in Patients With Genitourinary Malignancies Undergoing Universal Testing: A Multi-Site Single-Institution Prospective Study.
The Journal of Urology ( IF 5.9 ) Pub Date : 2024-06-11 , DOI: 10.1097/ju.0000000000004089
Mouneeb M Choudry 1 , Adri M Durant 1 , Victoria S Edmonds 1 , Christopher J Warren 1 , Katie L Kunze 2 , Michael A Golafshar 2 , Sarah M Nielsen 3 , Edward D Esplin 3 , Jack R Andrews 1 , N Jewel Samadder 4, 5, 6 , Mark D Tyson 1
Affiliation  

This study aimed to investigate the prevalence of pathogenic germline variants (PGV) in hereditary cancer genes utilizing a universal testing approach and to determine the rate of PGV that would have been missed based on National Comprehensive Cancer Network (NCCN) guidelines in genitourinary (GU) malignancies.

中文翻译:


在接受普遍测试的泌尿生殖系统恶性肿瘤患者中鉴定出种系致病变异:一项多中心单机构前瞻性研究。



本研究旨在利用通用检测方法调查遗传性癌症基因中致病性种系变异 (PGV) 的患病率,并确定根据国家综合癌症网络 (NCCN) 泌尿生殖 (GU) 指南遗漏的 PGV 率恶性肿瘤。
更新日期:2024-06-11
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