Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

ABSTRACT:

Background

Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the mean age-specific cumulative risk (penetrance) of colorectal cancer for all carriers of pathogenic variants in the same gene. We aimed to estimate the variation in the penetrance of colorectal cancer between carriers of pathogenic variants in the same gene by sex and continent of residence.

Methods

In this retrospective cohort study, we sourced data from the International Mismatch Repair Consortium, which comprises 273 members from 122 research centres or clinics in 32 countries from six continents who are involved in Lynch syndrome research. Families with at least three members and at least one confirmed carrier of a pathogenic

SUBMITTER: International Mismatch Repair Consortium 

PROVIDER: S-EPMC8934577 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature