Influence of family history on penetrance of hereditary cancers in a population setting.

ABSTRACT:

Background

We sought to investigate how penetrance of familial cancer syndromes varies with family history using a population-based cohort.

Methods

We analysed 454,712 UK Biobank participants with exome sequence and clinical data (data collected between March 2006 and June 2021). We identified participants with a self-reported family history of breast or colorectal cancer and a pathogenic/likely pathogenic variant in the major genes responsible for hereditary breast cancer or Lynch syndrome. We calculated survival to cancer diagnosis (controlled for sex, death, recruitment centre, screening and prophylactic surgery).

Findings

Women with a pathogenic BRCA1 or BRCA2 variant had an increased risk of breast cancer that was higher in those with a first-degree

SUBMITTER: Jackson L 

PROVIDER: S-EPMC10626157 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature