Mutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential.

ABSTRACT:

Background

Mismatch repair (MMR) deficiency is the hallmark of tumours from Lynch syndrome (LS), sporadic MLH1 hypermethylated and Lynch-like syndrome (LLS), but there is a lack of understanding of the variability in their mutational profiles based on clinical phenotypes. The aim of this study was to perform a molecular characterisation to identify novel features that can impact tumour behaviour and clinical management.

Methods

We tested 105 MMR-deficient colorectal cancer tumours (25 LS, 35 LLS and 45 sporadic) for global exome microsatellite instability, cancer mutational signatures, mutational spectrum and neoepitope load.

Results

Fifty-three percent of tumours showed high contribution of MMR-deficient mutational signatures, high level of global exome microsatellit

SUBMITTER: Giner-Calabuig M 

PROVIDER: S-EPMC9130322 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature