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

doi:10.1038/s41416-022-01754-1

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Article

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

British journal of cancer - 1 Jun 2022

Giner-Calabuig Mar, De Leon Seila, Wang Julian, Fehlmann Tara D, Ukaegbu Chinedu, Gibson Joanna, Alustiza-Fernandez Miren, Pico Maria-Dolores, Alenda Cristina, Herraiz Maite, Carrillo-Palau Marta, Salces Inmaculada, Reyes Josep, Ortega Silvia P, Obrador-Hevia Antònia, Cecchini Michael, Syngal Sapna, Stoffel Elena, Ellis Nathan A, Sweasy Joann, Jover Rodrigo, Llor Xavier, Xicola Rosa M

Abstract excerpt

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...

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Identifiers

PMID: 35197584
DOI: 10.1038/s41416-022-01754-1
PMCID: PMC9130322

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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