Association of inherited pathogenic variants in checkpoint kinase 2 (CHEK2) with susceptibility to testicular germ cell tumors
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 cancer predisposition DRGs in
patients with TGCTs vs healthy controls. Design, Setting, and Participants A case-control …
(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 cancer predisposition DRGs in
patients with TGCTs vs healthy controls. Design, Setting, and Participants A case-control …