Artikel
Checkpointkinase 2 1100delC mutations in squamous cell carcinomas of the head and neck (SSCHN)
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Veröffentlicht: | 8. August 2007 |
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Gliederung
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Background: The checkpointkinase 2 (CHK2) is part of the highly conserved ATM-CHK2 signaling pathway, which is activated in response to DNA-damage. By induction of downstream targets, of which one of the major ones is the tumorsuppressor p53, its activation leads to cell cycle arrest and apoptosis. Recently, the presence of CHK2 germline as well as somatic mutations have been reported to be involved in carcinogenesis.
At least for some carcinomas these mutations are described to be mutationally exclusive to the presence of p53 mutations. The aim of this study was to evaluate the importance of CHK2 germline mutation 1100delC in patients suffering from squamous cell carcinomas of the head and neck (SCCHN). This mutation leads to a frameshift and therefore the formation of a new stop codon, and finally results in a truncated, instable, and inactive CHK2 protein.
Methods: In DNA of peripheral blood lymphocytes of 64 patients suffering from SCCHN, we performed sequence analysis of exon 10 of CHK2.
Results: There was no 1100delC mutation detected in 64 patients suffering from SCCHN
Conclusion: The 1100delC germline mutation does not seem to play a role in the predisposition for developing SCCHN.