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Article

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

British journal of cancer - 28 Feb 2005

Jekimovs C R, Chen X, Arnold J, Gatei M, Richard D J, Spurdle A B, Khanna K K, Chenevix-Trench G

Abstract excerpt

A protein-truncating variant of CHEK2, 1100delC, is associated with a moderate increase in breast cancer risk. We have determined the prevalence of this allele in index cases from 300 Australian multiple-case breast cancer families, 95% of which had been found to be negative for mutations in BRCA1 and BRCA2. Only two (0.6%) index cases heterozygous for the CHEK2 mutation were identified. All available relatives...

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Source

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Identifiers

PMID: 15700044
DOI: 10.1038/sj.bjc.6602381
PMCID: PMC2361879

Genes

CHEK2
BRCA1
BRCA2

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals.PMID 15700044Read ↗

The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families.Semantic proximity Read ↗

Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.Semantic proximity Read ↗

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.Semantic proximity Read ↗

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

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

Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women.Semantic proximity Read ↗

Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial studySemantic proximity Read ↗

CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.Semantic proximity Read ↗

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

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls.Semantic proximity Read ↗

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

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