Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.

ABSTRACT:

Purpose

Previous studies have shown an approximately two-fold elevation in the relative risk of urinary bladder cancer (UBC) among people with a family history that could not be entirely explained by shared environmental exposures, thus suggesting a genetic component in its predisposition. Multiple genome-wide association studies and recent gene panel sequencing studies identified several genetic loci that are associated with UBC risk; however, the list of UBC-associated variants and genes is incomplete.

Materials and methods

We exome sequenced eight patients from three multiplex UBC pedigrees and a group of 77 unrelated familial UBC cases matched to 241 cancer-free controls. In addition, we examined pathogenic germline variation in 444 candidate genes in 392 The Cancer Geno

SUBMITTER: Pemov A 

PROVIDER: S-EPMC8710334 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature