Article
Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors.
JAMA oncology - 1 Apr 2019
AlDubayan Saud H, Pyle Louise C, Gamulin Marija, Kulis Tomislav, Moore Nathanael D, Taylor-Weiner Amaro, Hamid Anis A, Reardon Brendan, Wubbenhorst Bradley, Godse Rama, Vaughn David J, Jacobs Linda A, Meien Stefanie, Grgic Mislav, Kastelan Zeljko, Markt Sarah C, Damrauer Scott M, Rader Daniel J, Kember Rachel L, Loud Jennifer T, Kanetsky Peter A, Greene Mark H, Sweeney Christopher J, Kubisch Christian, Nathanson Katherine L, Van Allen Eliezer M, Stewart Douglas R, Lessel Davor
Abstract excerpt
IMPORTANCE: Approximately 50% of the risk for the development of testicular germ cell tumors (TGCTs) is estimated to be heritable, but no mendelian TGCT predisposition genes have yet been identified. It is hypothesized that inherited pathogenic DNA repair gene (DRG) alterations may drive susceptibility to TGCTs. OBJECTIVE: To systematically evaluate the enrichment of germline pathogenic variants in the mendelian...
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