Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses.

ABSTRACT:

Importance

Much of the understanding of cancer risk associated with rare pathogenic variants (RPVs) is derived from family-based studies or clinically ascertained samples, which may be limited by ascertainment and selection bias.

Objective

To quantify associations between RPVs in previously implicated cancer predisposition genes and single and multiple cancer diagnoses in a large population-based study.

Design, setting, and participants

In this genetic association study, whole-exome sequencing data were used from the UK Biobank, a UK population-based cohort that enrolled participants aged 40 to 69 years between 2006 and 2010. Participants who were involved in the whole-exome sequencing release of 200 000 genomes in 2020 were included in this study. This analysis inclu

SUBMITTER: Shevach JW 

PROVIDER: S-EPMC12395360 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature