ArticleEuropean journal of human genetics : EJHG2014
CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.Familial cancer · 2025Article
- Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.European journal of human genetics : EJHG · 2025Article
- Review
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Cohort profile: a nationwide study in DutchBMJ open · 2024Article
- Article
- The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.JNCI cancer spectrum · 2024Article
- Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?European journal of human genetics : EJHG · 2023Article
- Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient withFrontiers in pediatrics · 2023Article
- Review
- High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.Breast cancer research and treatment · 2020Article
- Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.European journal of human genetics : EJHG · 2020Article
- Breast cancer protection by genomic imprinting in close kin families.BMC medical genetics · 2017Review
- Homozygous inactivation ofCold Spring Harbor molecular case studies · 2016Article
- Counselling framework for moderate-penetrance cancer-susceptibility mutations.Nature reviews. Clinical oncology · 2016Review
- Hereditary breast and ovarian cancer: new genes in confined pathways.Nature reviews. Cancer · 2016Review
- Prevalence of theHereditary cancer in clinical practice · 2016Article
- A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.Familial cancer · 2015Article
- Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.Breast cancer research : BCR · 2014Article
Corrections and comments
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 1100delC mutation in the CHEK2 gene has a carrier frequency of up to 1.5% in individuals from North-West Europe. Women heterozygous for 1100delC have an increased breast cancer risk (odds ratio 2.7). To explore the prevalence and clinical consequences of 1100delC homozygosity in the Netherlands, we genotyped a sporadic breast cancer hospital-based cohort, a group of non-BRCA1/2 breast cancer families, and breast tumors from a tumor tissue bank. Three 1100delC homozygous patients were found in the cohort of 1434 sporadic breast cancer patients, suggesting an increased breast cancer risk for 1100delC homozygotes (odds ratio 3.4, 95% confidence interval 0.4-32.6, P=0.3). Another 1100delC homozygote was found in 592 individuals from 108 non-BRCA1/2 breast cancer families, and two more were found after testing 1706 breast tumors and confirming homozygosity on their wild-type DNA. Follow-up data was available for five homozygous patients, and remarkably, three of them had developed contralateral breast cancer. A possible relationship between 1100delC and lung cancer risk was investigated in 457 unrelated lung cancer patients but could not be confirmed. Due to the small number of 1100delC homozygotes identified, the breast cancer risk estimate associated with this genotype had limited accuracy but is probably higher than the risk in heterozygous females. Screening for CHEK2 1100delC could be beneficial in countries with a relatively high allele frequency.
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