Analysis of genetic alterations associated with hereditary non-polyposis colorectal cancer.

Project leader: Zdena Bartošová
Project duration: 2005 - 2007

Colorectal carcinoma became the most common carcinoma in Slovakia and its hereditary nonpolyposis form is the most common inherited cancer predisposition syndrome. It accounts for 5-8% of all colorestal cancers. The possibility to identify, using molecular biological tests, the individual at risk, namely, offspring who inherited mutations in the associated genes, will contribute to the spectacular decrease in disease incidence and reduction of mortality in the HNPCC families, due to the fact that colon cancer can be largely prevented by colonoscopy or cured through early surgical intervention. Mutational screening is time-consuming and since in many families no mutations have been found, a number of them are believed to escape recent detection strategies. It is estimated, that in Slovakia may be as many as 800 HNPCC families, however, the causative inherited mutations have been succesfully identifed so far in only 6 of them. The screening has been limited to point mutations and small deletions in the MLH1 and MSH2 genes. The ambition of this project is to improve screening strategies, significantly increase the number of identified family mutations, extend the spectrum of screened genes and establish metodical approaches revealing larger gene deletions.

More   Publications