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Article

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

Breast cancer research : BCR - 1 Jan 2004

Friedrichsen Danielle M, Malone Kathleen E, Doody David R, Daling Janet R, Ostrander Elaine A

Abstract excerpt

INTRODUCTION: The cell-cycle checkpoint kinase (CHEK)2 protein truncating mutation 1100delC has been associated with increased risk for breast or prostate cancer. Multiple studies have found an elevated frequency of the 1100delC variant in specific stratifications of breast cancer patients with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15535844
DOI: 10.1186/bcr933
PMCID: PMC1064080

Genes

CHEK2
BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15535844-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women.PMID 15535844Read ↗

Frequency of CHEK2*1100delC in New York breast cancer cases and controls.Semantic proximity Read ↗

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

The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry.Semantic proximity Read ↗

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

Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study.Semantic proximity Read ↗

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.Semantic proximity Read ↗

CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.Semantic proximity Read ↗

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

CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.Semantic proximity Read ↗

Linkage disequilibrium mapping of CHEK2: common variation and breast cancer risk.Semantic proximity Read ↗

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