ArticleJournal of medical genetics2006
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 115 citations in OpenAlex.
- Breast-Ovarian Hereditary Cancer Syndrome: BeyondCurrent oncology (Toronto, Ont.) · 2026Review
- Protein-truncating and rare missense variants inJournal of medical genetics · 2024Article
- Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.PLoS genetics · 2024Article
- Further Association of GermlineJournal of clinical medicine · 2023Article
- Impact of DNA damage repair alterations on prostate cancer progression and metastasis.Frontiers in oncology · 2023Review
- Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.International journal of molecular sciences · 2022Article
- Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.JAMA oncology · 2022Article
- Comprehensive Clinical and Genetic Analysis ofGenes · 2022Article
- Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.Human molecular genetics · 2022Article
- Genomic Breakpoints' Characterization of a LargeDiagnostics (Basel, Switzerland) · 2022Article
- Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability.Breast cancer research and treatment · 2022Article
- E2F1 copy number variations in germline and breast cancer: a retrospective study of 222 Italian women.Molecular medicine (Cambridge, Mass.) · 2021Article
- Review
- Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.Diagnostics (Basel, Switzerland) · 2020Article
- Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?International journal of molecular sciences · 2020Review
- Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.NPJ genomic medicine · 2020Article
- One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.Journal of medical genetics · 2020Article
- Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing.Frontiers in bioengineering and biotechnology · 2020Article
- Coexisting GermlineCancers · 2019Article
- Case Report of an Adrenocortical Carcinoma Associated With GermlineJournal of the Endocrine Society · 2019Article
Corrections and comments
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Authors and funding
28 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGermline mutations in the Chek2 kinase gene (CHEK2) have been associated with a range of cancer types. Recently, a large deletion of exons 9 and 10 of CHEK2 was identified in several unrelated patients with breast cancer of Czech or Slovak origin. The geographical and ethnic extent of this founder allele has not yet been determined. PARTICIPANTS AND
methodsWe assayed for the presence of this deletion, and of three other CHEK2 founder mutations, in 1864 patients with prostate cancer and 5496 controls from Poland.
resultsThe deletion was detected in 24 of 5496 (0.4%) controls from the general population, and is the most common CHEK2 truncating founder allele in Polish patients. The deletion was identified in 15 of 1864 (0.8%) men with unselected prostate cancer (OR 1.9; 95% CI 0.97 to 3.5; p = 0.09) and in 4 of 249 men with familial prostate cancer (OR 3.7; 95% CI 1.3 to 10.8; p = 0.03). These ORs were similar to those associated with the other truncating mutations (IVS2+1G-->A, 1100delC).
conclusionA large deletion of exons 9 and 10 of CHEK2 confers an increased risk of prostate cancer in Polish men. The del5395 founder deletion might be present in other Slavic populations, including Ukraine, Belarus, Russia, Baltic and Balkan countries. It will be of interest to see to what extent this deletion is responsible for the burden of prostate cancer in other populations.
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