The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

ABSTRACT:

Background

Lynch syndrome (LS) is the most frequent genetically pre-disposed colorectal cancer (CRC) syndrome, accounting for 2-3% of all CRC cases. In Estonia, ~1000 new cases are diagnosed each year. This retroactive and prospective study aimed to estimate the prevalence of LS and describe disease-causing variants in mismatch repair (MMR) genes in a diagnostic setting and in the Estonian general population.

Methods

LS data for the diagnostic cohort were gathered from 2012 to 2022 and data for the general population were acquired from the Estonian Biobank (EstBB). Furthermore, we conducted a pilot study to estimate the improvement of LS diagnostic yield by raising the age limit to >50 years for immunohistochemistry analysis of MMR genes.

Results

We estimated LS live

SUBMITTER: Roht L 

PROVIDER: S-EPMC10377710 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature