Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Stotz, M.
Analysis of germline polymorphisms in the HIF1A gene to predict CRC risk and relapse.
[ Diplomarbeit/Master Thesis ] Graz Medical University; 2010. pp.74.
[OPEN ACCESS]
FullText
- Autor*innen der Med Uni Graz:
- Stotz Michael
- Betreuer*innen:
- Gerger Armin
- Samonigg Hellmut
- Altmetrics:
- Abstract:
- Colorectal carcinoma is one of the most common cancers. The incidence in Austria is about 33 new cases per year. The risk of developing cancer of the gastrointestinal tract is increased in individuals of higher age and influenced by factors like environment and genetic. In the last few years various genetic factors have been examined, including the hypoxia inducible factor alpha (HIF1A) gene on chromosome 14q. Two missense mutations are situated on this gene region P582S (C1772T) and A588T (G1790A). In this diploma thesis the role of these single nucleotide polymorphisms (SNPs) regarding the risk of developing colorectal cancer (CRC) and furthermore the association between these SNPs and DFS shall be examined. Therefore 381 patients with histologically confirmed CRC were genotyped with TaqMan and compared with a control group of 2156 healthy individuals. We found that neither a correlation between these SNPs and disease-free survival nor an association between both SNPs and the risk of developing CRC exists. However, in an exploratory analysis, the HIF1A 588T allele was associated with tumor localization and tumor size. Furthermore, a significant correlation could be found for the Karnofsky index, tumour size, clinical stage, number of metastatic lymph nodes and the treatment with 5-FU chemotherapy with disease-free survival.