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Article

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.

Familial cancer - 1 Jan 2019

Bush Lisa, Aronson Melyssa, Tabori Uri, Campbell Brittany B, Bedgood Raymond B, Jasperson Kory

Abstract excerpt

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated...

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Source

Identifiers

PMID: 29785566
DOI: 10.1007/s10689-018-0088-0

Genes

MSH6

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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