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Article

CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.

Cancer genetics - 1 Apr 2015

Apostolou Paraskevi, Fostira Florentia, Papamentzelopoulou Myrto, Michelli Maria, Panopoulos Christos, Fountzilas George, Konstantopoulou Irene, Voutsinas Gerassimos E, Yannoukakos Drakoulis

Abstract excerpt

The CHEK2 gene encodes a protein kinase that plays a crucial role in maintenance of genomic integrity and the DNA repair mechanism. CHEK2 germline mutations are associated with increased risk of breast cancer and other malignancies. From a clinical perspective, the most significant mutation identified is the c.1100delC mutation, which is associated with an approximately 25% lifetime breast cancer risk. The...

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Source

Identifiers

PMID: 25835597
DOI: 10.1016/j.cancergen.2015.02.006

Genes

CHEK2
BRCA1

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.

Related research

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CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.PMID 25835597Read ↗

CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer.Semantic proximity Read ↗

Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.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 ↗

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

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families.Semantic proximity Read ↗

Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients.Semantic proximity Read ↗

German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer.Semantic proximity Read ↗

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

[CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer].Semantic 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 ↗

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