Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors.

ABSTRACT:

Purpose

Biallelic germline pathogenic variants of the base excision repair (BER) pathway gene MUTYH predispose to colorectal cancer (CRC) and other cancers. The possible association of heterozygous variants with broader cancer susceptibility remains uncertain. This study investigated the prevalence and consequences of pathogenic MUTYH variants and MUTYH loss of heterozygosity (LOH) in a large pan-cancer analysis.

Materials and methods

Data from 354,366 solid tumor biopsies that were sequenced as part of routine clinical care were analyzed using a validated algorithm to distinguish germline from somatic MUTYH variants.

Results

Biallelic germline pathogenic MUTYH variants were identified in 119 tissue biopsies. Most were CRCs and showe

SUBMITTER: Paller CJ 

PROVIDER: S-EPMC10901435 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature