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Article

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

Pediatric blood & cancer - 1 Jun 2008

Jackson Carl-Christian, Holter Spring, Pollett Aaron, Clendenning Mark, Chou Shirley, Senter Leigha, Ramphal Raveena, Gallinger Steven, Boycott Kym

Abstract excerpt

A 14-year-old male presented with a T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple café-au-lait macules. Family history was not suggestive of a dominant hereditary form of colorectal cancer. Evaluation of the tumor revealed abnormal immunohistochemical staining of the PMS2 protein a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mismatch Repair Endonuclease PMS2

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Source

Identifiers

PMID: 18273873
DOI: 10.1002/pbc.21514

Genes

PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18273873-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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