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Article

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.

Familial cancer - 1 Jan 2007

van Puijenbroek Marjo, Nielsen Maartje, Reinards Tjitske H C M, Weiss Marjan M, Wagner Anja, Hendriks Yvonne M C, Vasen Hans F A, Tops Carli M J, Wijnen Juul, van Wezel Tom, Hes Frederik J, Morreau Hans

Abstract excerpt

In the inherited syndromes, MUTYH-associated polyposis (MAP) and hereditary nonpolyposis colorectal cancer (HNPCC), somatic mutations occur due to loss of the caretaker function that base-repair (BER) and mismatch repair (MMR) genes have, respectively. Recently, we identified a large branch from a MSH6 HNPCC family in which 19 family members are heterozygous or compound heterozygous for MUTYH germ line mutations....

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Source

Identifiers

PMID: 17039270
DOI: 10.1007/s10689-006-9103-y

Genes

MSH6
MUTYH
APC

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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