ArticleAmerican journal of human genetics2002
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 176 papers, 2 of them syntheses that pooled it.
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Who cites it
176 citing papers in PubMed, 2 syntheses or guidelines pooled it, 476 citations in OpenAlex.
- Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.Molecular diagnosis & therapy · 2018Pooled it
- Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis.European radiology · 2010Pooled it
- The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients.Oncotarget · 2015Trial
- Predicting protein cascade expression from H&E images.PLoS computational biology · 2026Article
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- Predicting Protein Cascade Expression from H&E Images.medRxiv : the preprint server for health sciences · 2026Article
- Skin cancer risk in hereditary mixed cancer syndromes.Hereditary cancer in clinical practice · 2025Review
- Predisposition of an Intronic Duplication in CHEK2 Gene in the Cases of Breast Cancer from Balochistan.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.Familial cancer · 2025Article
- Population-based study of recurrent DNA damage response gene variants in breast cancer cases.Breast cancer research and treatment · 2025Article
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Rare Germline Variants in DNA Repair Genes Detected inCancers · 2024Article
- Review
- Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.European urology open science · 2024Article
- Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.Journal of experimental & clinical cancer research : CR · 2024Article
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- NTHL1 is a recessive cancer susceptibility gene.Scientific reports · 2023Article
- Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.Familial cancer · 2023Article
- TheGenes · 2023Article
116 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CHEK2 (previously known as "CHK2") is a cell-cycle-checkpoint kinase that phosphorylates p53 and BRCA1 in response to DNA damage. A protein-truncating mutation, 1100delC in exon 10, which abolishes the kinase function of CHEK2, has been found in families with Li-Fraumeni syndrome (LFS) and in those with a cancer phenotype that is suggestive of LFS, including breast cancer. In the present study, we found that the frequency of 1100delC was 2.0% among an unselected population-based cohort of 1,035 patients with breast cancer. This was slightly, but not significantly (P=.182), higher than the 1.4% frequency found among 1,885 population control subjects. However, a significantly elevated frequency was found among those 358 patients with a positive family history (11/358 [3.1%]; odds ratio [OR] 2.27; 95% confidence interval [CI] 1.11-4.63; P=.021, compared with population controls). Furthermore, patients with bilateral breast cancer were sixfold more likely to be 1100delC carriers than were patients with unilateral cancer (95% CI 1.87-20.32; P=.007). Analysis of the 1100delC variant in an independent set of 507 patients with familial breast cancer with no BRCA1 and BRCA2 mutations confirmed a significantly elevated frequency of 1100delC (28/507 [5.5%]; OR 4.2; 95% CI 2.4-7.2; P=.0002), compared with controls, with a high frequency also seen in patients with only a single affected first-degree relative (18/291 [6.2%]). Finally, tissue microarray analysis indicated that breast tumors from patients with 1100delC mutations show reduced CHEK2 immunostaining. The results suggest that CHEK2 acts as a low-penetrance tumor-suppressor gene in breast cancer and that it makes a significant contribution to familial clustering of breast cancer-including families with only two affected relatives, which are more common than families that include larger numbers of affected women.
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