Germline whole-exome sequencing reveals <i>FOXP3</i>-related gene variants conferring urinary cancer susceptibility and associated with immune escape.

ABSTRACT:

Background

The heritability of urinary tract cancer (UTC) remains unexplained by known pathogenic germline variants, and the influence of germline variants on treatment response to immune checkpoint inhibition (ICI) has yet to be fully elucidated.

Methods

In this case-control study, we performed a germline whole-exome sequencing of 810 UTC patients from the Oncology Research Information Exchange Network. A rare-variant burden test was conducted on the 810 patients and 2354 healthy controls from the Centre d'Etudes du Polymorphisme Humain families, the University of Utah Heritage 1000 Projects, and the 1000 Genomes Project, stratified into discovery and confirmation sets. We used a gene set-based rare-variant association test (GSRVAT) with near-match confirmation, testing for

SUBMITTER: Feng BJ 

PROVIDER: S-EPMC12443205 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature