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Article

Constitutional mismatch repair deficiency: a case on a commonly misinterpreted mutation in colon cancer.

Clinical journal of gastroenterology - 1 Oct 2024

C King, H Edwards, E Thompson, M Abdelmasseh, A Cuaranta, A Pacioles, J Sanabria

Abstract excerpt

It is estimated that 153,020 cases of CRC per year, with an increase in diagnoses in younger patients. We present a case of a female with an early presentation of Lynch Syndrome and CRC, who, on her third malignant presentation, was re-diagnosed as a constitutional mismatch repair deficiency.

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39093498
DOI: 10.1007/s12328-024-02015-9
PMCID: PMC11436462

Provenance

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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