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Article

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

European journal of cancer (Oxford, England : 1990) - 1 May 2011

Herkert Johanna C, Niessen Renée C, Olderode-Berends Maria J W, Veenstra-Knol Hermine E, Vos Yvonne J, van der Klift Heleen M, Scheenstra Rene, Tops Carli M J, Karrenbeld Arend, Peters Frans T M, Hofstra Robert M W, Kleibeuker Jan H, Sijmons Rolf H

Abstract excerpt

BACKGROUND: Bi-allelic germline mutations of one of the DNA mismatch repair genes, so far predominantly found in PMS2, cause constitutional MMR-deficiency syndrome. This rare disorder is characterised by paediatric intestinal cancer and other malignancies. We report the clinical, immunohistochemi...

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Source

Identifiers

PMID: 21376568
DOI: 10.1016/j.ejca.2011.01.013

Genes

PMS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21376568-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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