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Article

Pitfalls in the diagnosis of biallelic PMS2 mutations.

Familial cancer - 1 Sept 2015

Antelo Marina, Milito Daniela, Rhees Jennifer, Roca Enrique, Barugel Miguel, Cuatrecasas Miriam, Moreira Leticia, Leoz Maria Liz, Carballal Sabela, Ocaña Teresa, Pellisé Maria, Castells Antoni, Boland C Richard, Goel Ajay, Balaguer Francesc

Abstract excerpt

Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with an increased risk of synchronous and metachronous cancers, and signs of Neurofibromatosis type-1...

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Source

Identifiers

PMID: 25773960
DOI: 10.1007/s10689-015-9793-0

Genes

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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The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young IndividualsSemantic proximity Read ↗

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