tailieunhanh - Báo cáo khoa hoc:" The checkpointkinase 2 (CHK2) 1100delC germ line mutation is not associated with the development of squamous cell carcinoma of the head and neck (SCCHN)"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The checkpointkinase 2 (CHK2) 1100delC germ line mutation is not associated with the development of squamous cell carcinoma of the head and neck (SCCHN) | Scheckenbach et al. Journal of Negative Results in BioMedicine 2010 9 10 http content 9 1 10 r M 1 JOURNAL OF NEGATIVE RESULTS IN BIOMEDICINE RESEARCH Open Access The checkpointkinase 2 CHK2 1100delC germ line mutation is not associated with the development of squamous cell carcinoma of the head and neck sCcHN Kathrin Scheckenbach1 Galatia Papadopoulou1 Thomas K Hoffmann1 Adam Chaker1 Henning Bier2 Jorg Schipper1 Vera Balz1 Martin Wagenmann1 Abstract Background The checkpointkinase 2 CHK2 is part of the highly conserved ATM-CHK2 signaling pathway which is activated in response to DNA damage in particular after double strand breaks which can be caused by carcinogens like smoking. After induction of downstream targets . the tumor suppressor p53 its activation leads to cell cycle arrest and apoptosis. Recently the presence of CHK2 germ line mutations primarily the 1100delC variant has been reported to be involved in carcinogenesis. The CHK2 1100delC variant results in a truncated protein which is instable and inactive. Carriers of this variant have been shown to have an increased risk to develop breast cancer and probably also other tumors. Our purpose was to investigate the role of CHK2 germ line mutations in patients with squamous cell carcinoma of the head and neck SCCHN . Materials and Methods We investigated 91 patients suffering from SCCHN including all tumor sites oropharynx hypopharynx larynx for the presence of the germ line mutation 1100delC by direct sequence analysis. Patients were characterized by their tumor localization tumor stage age the presence of additional malignant tumors and predisposing carcinogens smoking alcohol abuse . Results None of the patients independently of the tumor site age the abuse of predisposing carcinogens or the presence of other kinds of tumors carried the CHK2 1100delC variant. Conclusions The germ line CHK2 1100delC variant does not seem to have a major impact on the development of SCCHN. Background Head .