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Article

Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

Pediatric blood & cancer - 1 Nov 2013

Walter Andrew W, Ennis Sara, Best Hunter, Vaughn Cecily P, Swensen Jeffrey J, Openshaw Amanda, Gripp Karen W

Abstract excerpt

A 13-year-old child presented with three simultaneous malignancies: glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the PMS2 gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened: three of four siblings...

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Topics

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Share to Adenosine Triphosphatases
Share to Burkitt Lymphoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colonic Neoplasms

Share to DNA Repair Enzymes

Share to Glioblastoma

Share to Mismatch Repair Endonuclease PMS2

Share to Neoplasms, Multiple Primary

Share to Neoplastic Syndromes, Hereditary

Source

Identifiers

PMID: 23729388
DOI: 10.1002/pbc.24613

Genes

PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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