Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank.

ABSTRACT: BackgroundLynch syndrome (LS) is an inherited cancer predisposition syndrome caused by genetic variants affecting DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 Cancer risk in LS is estimated from cohorts of individuals ascertained by individual or family history of cancer, which may upwardly bias estimates.

Methods

830 carriers of pathogenic or likely pathogenic (path_MMR) MMR gene variants classified by InSiGHT were identified in 454 756 UK Biobank (UKB) participants using whole-exome sequence. Nelson-Aalen survival analysis was used to estimate cumulative incidence of colorectal, endometrial and breast cancer (BC).

Results

Cumulative incidence of colorectal and endometrial cancer (EC) by age 70 years was elevated in path_MMR

SUBMITTER: Fummey E 

PROVIDER: S-EPMC11420727 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature