Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.

ABSTRACT:

Purpose

This study aimed to characterize MSH6/PMS2-associated mismatch repair-deficient (MMR-D)/microsatellite instability-high (MSI-H) tumors, given revised guidelines suggesting more modest phenotypes.

Methods

Patients who consented to Institutional Review Board-approved protocols of tumor/germline sequencing or Lynch syndrome registry at a single institution from February 2005 to January 2021 with germline, heterozygous MSH6/PMS2 pathogenic/likely pathogenic variants were identified. Clinical data were abstracted and correlated with MMR/microsatellite instability status using nonparametric tests.

Results

We identified 243 patients (133 sequencing, 110 registry) with germline MSH6/PMS2 pathogenic/likely pathogenic variants; 186 (77%) had >1 cancer. Of 261 pooled tum

SUBMITTER: Liu YL 

PROVIDER: S-EPMC9942243 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature