Klin Onkol 2005; 18(3): 98-101.
Summary: Backgrounds: Breast cancer belongs to the most serious malignant diseases in the female population in the Czech Republic. It is assumed that inherited mutations contribute to the development of 5-10% of cancers. In recent years, the role of mutations of the low penetrance genes is studied intensively. One of them is checkpoint kinase 2 (CHEK2). Mutations in this gene were shown to predispose to the development of several inherited cancer syndromes, including breast cancer. Study design: We have performed mutation analysis of pathogenic CHEK2 allele c1100delC in 1776 subjects including 688 breast cancer patients, 358 patients screened for mutations in major predisposing genes and 730 non cancer controls. Mutation analysis was based on DHPLC prescreening, mutations were confirmed by sequencing. Results: We have found 6 mutation carriers: 3 in sporadic breast cancer patients’ cohort, one male breast cancer patient in hereditary breast cancer patients’ cohort and 2 among 730 controls. Conclusion: Based on our data, we can speculate that Czech Republic belongs to the countries with low occurrence of CHEK2 c1100delC allele, which limits clinical utilization of CHEK2 genetic analysis.
