Article
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.
European urology - 1 Apr 2024
Pyle Louise C, Kim Jung, Bradfield Jonathan, Damrauer Scott M, D'Andrea Kurt, Einhorn Lawrence H, Godse Rama, Hakonarson Hakon, Kanetsky Peter A, Kember Rachel L, Jacobs Linda A, Maxwell Kara N, Rader Daniel J, Vaughn David J, Weathers Benita, Wubbenhorst Bradley, Regeneron Genetics Center Research Team, Cancer Genomics Research Laboratory, Greene Mark H, Nathanson Katherine L, Stewart Douglas R
Abstract excerpt
BACKGROUND: Testicular germ cell tumor (TGCT) is the most common cancer among young White men. TGCT is highly heritable, although there are no known high-penetrance predisposition genes. CHEK2 is associated with moderate TGCT risk. OBJECTIVE: To identify coding genomic variants associated with predisposition to TGCT. DESIGN, SETTING, AND PARTICIPANTS: The study involved 293 men with familial or bilateral (high...
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