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Article

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors

25 Jan 2019

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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PMID: 30676620
DOI: 10.1001/jamaoncol.2018.6477

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