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Article

Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype.

The Journal of pathology - 1 Jun 2005

van Puijenbroek Marjo, van Asperen Christi J, van Mil Anneke, Devilee Peter, van Wezel Tom, Morreau Hans

Abstract excerpt

It has recently been suggested that the frequency of the germline CHEK2*1100delC mutation is higher among breast cancer families with colorectal cancer, although the mutation does not seem to be significantly associated with familial colorectal cancer. Five hundred and sixty-four familial colorectal tumours were studied for expression of CHEK2 using tissue microarrays and an antibody against the NH2-terminal SQ...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15818573
DOI: 10.1002/path.1764

Genes

CHEK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype.PMID 15818573Read ↗

Limited relevance of the CHEK2 gene in hereditary breast cancer.Semantic proximity Read ↗

CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.Semantic proximity Read ↗

CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer.Semantic proximity Read ↗

Colorectal cancer and the CHEK2 1100delC mutation.Semantic proximity Read ↗

Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patientsSemantic proximity Read ↗

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.Semantic proximity Read ↗

CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.Semantic proximity Read ↗

Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America.Semantic proximity Read ↗

Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals.Semantic proximity Read ↗

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers.Semantic proximity Read ↗

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.Semantic proximity Read ↗

Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the <i>CHEK2*1100delC</i> Germline MutationSemantic proximity Read ↗

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