EP052: Coding defects in chromosomal segregation and protein targeting are central to TGCT predisposition

Abstract

Testicular germ cell tumor (TGCT) is the most common cancer of young men of genetic European ancestry. Although rare, TGCT results in the most years of life lost of all adult cancers. Genome-wide association studies (GWAS) of TGCT have been highly successful, with over 66 independent hits, the highest OR = ∼3.5 (KITLG). This reflects the high heritability of the disease. We and others identified the tumor-suppressor CHEK2 as the first Mendelian gene associated with TGCT predisposition. Earlier exome studies yielded a variety of results, including association with DNAAF1, PLEC, DNAH7, EXO5, and ciliary genes.