The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic
Language English Country Netherlands Media print
Document type Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Checkpoint Kinase 2 MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- DNA Mutational Analysis MeSH
- Breast Neoplasms, Male epidemiology genetics MeSH
- Breast Neoplasms epidemiology genetics MeSH
- Protein Serine-Threonine Kinases genetics MeSH
- Risk MeSH
- Case-Control Studies MeSH
- Germ-Line Mutation * MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic epidemiology MeSH
- Names of Substances
- Checkpoint Kinase 2 MeSH
- CHEK2 protein, human MeSH Browser
- Protein Serine-Threonine Kinases MeSH
In this study we performed the CHEK2 c.1100delC mutation analysis in 1046 breast cancer patients and 730 unaffected control individuals. The mutated allele was found in 3 out of 688 unselected sporadic breast cancer patients and in 1 out of 358 familial/early onset breast cancer patients. Two mutations were identified in a cohort of 730 controls. Our results support the finding that frequency of CHEK2 c.1100delC mutation varies among different populations. Based on our results, genotyping of CHEK2 c.1100delC mutation in clinical settings in the Czech Republic could not be recommended.
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