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Article

Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

International journal of colorectal disease - 1 Dec 2006

Okkels Henrik, Sunde Lone, Lindorff-Larsen Karen, Thorlacius-Ussing Ole, Gandrup Per, Lindebjerg Jan, Stubbeteglbjaerg Peter, Oestergaard John R, Nielsen Finn Cilius, Krarup Henrik Bygum

Abstract excerpt

Hereditary non-polyposis colorectal cancer and familial adenomatus polyposis are autosomal dominant diseases accounting for 5-7% of all colorectal cancer cases. Inheritance of mutations associated with both syndromes in the same individual has, so far, only been observed in a few cases. This report outlines the findings in a proband of a HNPCC family, who presented with colorectal cancer and with multiple...

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Source

Identifiers

PMID: 16525781
DOI: 10.1007/s00384-006-0086-9

Genes

MSH6
APC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.PMID 16525781Read ↗

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Double frameshift mutations in APC and MSH2 in the same individual.Semantic proximity Read ↗

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Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.Semantic proximity Read ↗

Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: problems and pitfalls in an extended pedigree.Semantic proximity Read ↗

Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote.Semantic proximity Read ↗

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.Semantic proximity Read ↗

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Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.Semantic proximity Read ↗

Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.Semantic proximity Read ↗

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.Semantic proximity Read ↗

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