作者
Amin H Nassar, Sarah Abou Alaiwi, Saud H AlDubayan, Nicholas Moore, Kent W Mouw, David J Kwiatkowski, Toni K Choueiri, Catherine Curran, Jacob E Berchuck, Lauren C Harshman, Pier V Nuzzo, Nieves Martinez Chanza, Eliezer Van Allen, Edward D Esplin, Shan Yang, Thomas Callis, Judy E Garber, Huma Q Rana, Guru Sonpavde
发表日期
2020/4/1
期刊
Genetics in Medicine
卷号
22
期号
4
页码范围
709-718
出版商
Elsevier
简介
Purpose
To date, there has not been a large, systematic evaluation of the prevalence of germline risk variants in urothelial carcinoma (UC).
Methods
We evaluated the frequency of germline pathogenic and likely pathogenic variants in 1038 patients with high-risk UC who underwent targeted clinical germline testing. Case–control enrichment analysis was performed to screen for pathogenic variant enrichment in 17 DNA repair genes in 1038 UC patients relative to cancer-free individuals.
Results
Among 1038 patients with UC, the cumulative frequency of patients with pathogenic variants was 24%; 18.6% of patients harbored ≥1 actionable germline variant with preventive or therapeutic utility. MSH2 (34/969, 3.5%) and BRCA1/2 (38/867, 4.4%) germline variants had the highest frequency. Germline variants in DNA damage repair genes accounted for 78% of pathogenic germline variants. Compared to the cancer-free …
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AH Nassar, S Abou Alaiwi, SH AlDubayan, N Moore… - Genetics in Medicine, 2020