Genetic changes associated with testicular cancer susceptibility

Document Type

Journal Article

Publication Date

10-1-2016

Journal

Seminars in Oncology

Volume

43

DOI

10.1053/j.seminoncol.2016.08.004

Keywords

Germ cell tumor; Sex development; Testicular cancer

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.

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