title: Genetic changes associated with testicular cancer susceptibility.
abstract: Testicular germ cell tumor (TGCT) is a highly heritable cancer primarily affecting young white men. Genome-wide association studies (GWAS) have been particularly effective in identifying multiple common variants with strong contribution to TGCT risk. These loci identified through association studies have implicated multiple genes as associated with TGCT predisposition, many of which are unique among cancer types, and regulate processes such as pluripotency, sex specification, and microtubule assembly. Together these biologically plausible genes converge on pathways involved in male germ cell development and maturation, and suggest that perturbation of them confers susceptibility to TGCT, as a developmental defect of germ cell differentiation.
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Louise C
authors.initials: LC
authors.lastname: Pyle
authors.affiliation: Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address: knathans@exchange.upenn.edu.
authors.forename: Katherine L
authors.initials: KL
authors.lastname: Nathanson
mesh_terms: D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008540:Meiosis; D009373:Neoplasms, Germ Cell and Embryonal / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D012307:Risk Factors; D019849:Sex Determination Processes; D013736:Testicular Neoplasms / Q000209:etiology / Q000235:genetics* / Q000473:pathology
keywords: Germ cell tumor; Sex development; Testicular cancer