作者
Hong Truong, Rania Sheikh, Ritesh Kotecha, Yelena Kemel, Peter A Reisz, Andrew T Lenis, Nikita N Mehta, Aliya Khurram, Vijai Joseph, Diana Mandelker, Alicia Latham, Ozge Ceyhan-Birsoy, Marc Ladanyi, Neil J Shah, Michael F Walsh, Martin H Voss, Chung-Han Lee, Paul Russo, Jonathan A Coleman, A Ari Hakimi, Darren R Feldman, Zsofia K Stadler, Mark E Robson, Robert J Motzer, Kenneth Offit, Sujata Patil, Maria I Carlo
发表日期
2021/12/1
期刊
European urology oncology
卷号
4
期号
6
页码范围
993-1000
出版商
Elsevier
简介
Background
Despite guidelines recommending genetic counseling for patients with early-onset renal cell carcinoma (RCC), studies interrogating the spectrum of germline mutations and clinical associations in patients with early-onset RCC are lacking.
Objective
To define the germline genetic spectrum and clinical associations for patients with early-onset RCC diagnosed at age ≤46 yr who underwent genetic testing.
Design, setting, and participants
We retrospectively identified patients with early-onset RCC who underwent germline testing at our institution from February 2003 to June 2020.
Outcome measurement and statistical analysis
The frequency and spectrum of pathogenic/likely pathogenic (P/LP) variants were determined. Clinical characteristics associated with mutation status were analyzed using two-sample comparison (Fisher’s exact or χ2 test).
Results and limitations
Of 232 patients with early-onset RCC …
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H Truong, R Sheikh, R Kotecha, Y Kemel, PA Reisz… - European urology oncology, 2021