Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.

ABSTRACT:

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 risk; HR)-TGCT representing 228 unique families and 3157 cancer-free controls.

Outcome measurements and statistical analysis

We carried out exome sequencing and gene burden analysis to identify associations with TGCT risk.

Results and limitations

Gene burden association identified several genes, including loss-of-function variants of NIN and QRSL1. We

SUBMITTER: Pyle LC 

PROVIDER: S-EPMC10676450 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature