An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes.

doi:10.1038/s41379-021-00918-3

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Article

An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Mar 2022

Jaffrelot Marion, Farés Nadim, Brunac Anne Cécile, Laurenty Anne Pascale, Danjoux Marie, Grand David, Icher Samira, Meilleroux Julie, Mery Eliane, Buscail Etienne, Maulat Charlotte, Toulas Christine, Vande Perre Pierre, Chipoulet Edith, Bonnet Delphine, Staub Anne, Guimbaud Rosine, Selves Janick

Abstract excerpt

Immunohistochemistry (IHC) and/or MSI-PCR (microsatellite instability-polymerase chain reaction) tests are performed routinely to detect mismatch repair deficiency (MMR-D). Classical MMR-D tumors present a loss of MLH1/PMS2 or MSH2/MSH6 with MSI-High. Other profiles of MMR-D tumors have been described but have been rarely studied. In this study, we established a classification of unusual MMR-D tumors and...

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PMID: 34545179
DOI: 10.1038/s41379-021-00918-3
PMCID: PMC8860743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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