Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individuals.

ABSTRACT:

Purpose

Germline deletions affecting the Y-chromosomal gr/gr region were reported in 2005 as associated with susceptibility to testicular germ cell tumor (TGCT), a highly heritable tumor type that is the most common cancer type affecting adult men under the age of 45. Attempts to replicate this association have been equivocal, primarily due to limited power.

Methods

Here, we compare and validate two computational approaches to gr/gr deletion calling in high-, low- and ultra-low-coverage whole genome sequencing data, applying these to two datasets from UK Biobank and the TECAC consortium. We generate dataset-specific effect size estimates for the gr/gr deletion-TGCT association using Firth's bias-reduced logistic regression across a total of 198,306 men of European-like ances

SUBMITTER: Choi S 

PROVIDER: S-EPMC12889780 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature