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Article

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Genes, chromosomes & cancer - 1 Jul 2013

Chmara Magdalena, Wernstedt Annekatrin, Wasag Bartosz, Peeters Hilde, Renard Marleen, Beert Eline, Brems Hilde, Giner Tina, Bieber Imke, Hamm Henning, Sciot Raf, Wimmer Katharina, Legius Eric

Abstract excerpt

Constitutional mismatch repair deficiency (CMMR-D) due to biallelic germline mutations in one of four mismatch repair genes causes a childhood cancer syndrome characterized by a broad tumor spectrum including hematological malignancies, and brain and Lynch syndrome-associated tumors. Herein, we report three children who had in addition to CMMR-D-associated malignancies multiple pilomatricomas. These are benign...

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Source

Identifiers

PMID: 23629955
DOI: 10.1002/gcc.22061

Genes

CTNNB1
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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