Original articleCHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases
Section snippets
Patient study group
This study involved 2,449 subjects (2,408 females and 41 males), who were diagnosed with breast cancer and were enrolled from several hospitals in Greece in collaboration with the Hellenic Cooperative Oncology Group (HeCOG). The study was approved by the Bioethics committees of National Center of Scientific Research “Demokritos” (240/EHΔ/11.3 [Number for the Bioethics Committee decision] updated on February 14, 2014) and Papageorgiou Hospital (193rd Decision of Bioethics Committee, January 15,
Results
The present study was performed on 2,449 breast cancer patients, including 2,408 females and 41 males, to determine the frequency of the c.1100delC allele of the CHEK2 gene in the Greek population. The median age of female and male breast cancer diagnosis was 49 years (range: 20−70 years) and 59 years (range: 39−80 years), respectively. A total of 1,383 of 2,408 (57.4%) patients developed breast cancer before the age of 50, whereas 1,020 of 2,408 (42.3%) patients were diagnosed before the age
Discussion
In the present study, we assessed the frequency of the CHEK2 c.1100delC mutation in a cohort of 2,449 Greek breast cancer patients. Four c.1100delC carriers were identified among the female breast cancer cases tested, giving rise to a frequency of 0.16%. This suggests that this mutation is rare, but it is not negligible in Greece. Our findings are supported by the large number of patients tested. This is the first study on the frequency of this specific allele in the Greek population, and it is
Acknowledgments
We thank the patients for their participation in this study. P.A. acknowledges support from the research program ARISTEIA. This research was co-financed by the European Union (European Social Fund, ESF) (ARISTEIA 39, P. BROCA) and Greek national funds through the Operational Program “Education and Lifelong Learning” of the National Strategic Reference Framework (NSRF)−Research Funding Program of the General Secretariat for Research & Technology (ARISTEIA 39, P. BROCA), which invests in
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