ArticleBMC cancer2013
Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan.
Article in BMC cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- What Is Known about Breast Cancer in Young Women?Cancers · 2023Review
- Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.Hereditary cancer in clinical practice · 2022Article
- In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.Biochemical genetics · 2021Article
- Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.Hereditary cancer in clinical practice · 2020Article
- Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.Cancer research and treatment · 2019Article
- Breast cancer protection by genomic imprinting in close kin families.BMC medical genetics · 2017Review
- High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.BMC cancer · 2016Article
- A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.Hereditary cancer in clinical practice · 2016Article
- Article
- Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia.PloS one · 2015Article
- DriverDB: an exome sequencing database for cancer driver gene identification.Nucleic acids research · 2014Article
- Systematic analysis of time-series gene expression data on tumor cell-selective apoptotic responses to HDAC inhibitors.Computational and mathematical methods in medicine · 2014Article
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLess than 20% of Pakistani women with early-onset or familial breast/ovarian cancer harbor germ line mutations in the high-penetrance genes BRCA1, BRCA2 and TP53. Thus, mutations in other genes confer genetic susceptibility to breast cancer, of which CHEK2 is a plausible candidate. CHEK2 encodes a checkpoint kinase, involved in response to DNA damage.
methodsIn the present study we assessed the prevalence of CHEK2 germ line mutations in 145 BRCA1/2-negative early-onset and familial breast/ovarian cancer patients from Pakistan (Group 1). Mutation analysis of the complete CHEK2 coding region was performed using denaturing high-performance liquid chromatography analysis, followed by DNA sequencing of variant fragments.
resultsTwo potentially deleterious missense mutations, c.275C>G (p.P92R) and c.1216C>T, (p.R406C), were identified (1.4%). The c.275C>G mutation is novel and has not been described in other populations. It was detected in a 30-year-old breast cancer patient with a family history of breast and multiple other cancers. The c.1216C>T mutation was found in a 34-year-old ovarian cancer patient from a family with two breast cancer cases. Both mutations were not detected in 229 recently recruited BRCA1/2-negative high risk patients (Group 2).
conclusionOur findings suggest that CHEK2 mutations may not contribute significantly to breast/ovarian cancer risk in Pakistani women.
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