List of Tables and Figures

Abstract

Tables. Table 1. Proven and “candidate” H NPCC genes. 14 Table 2. The Amsterdam criteria for the clinical diagnosis of H NPCC Families. 14 Table 3. The Bethesda guidelines to select for MSI testing of colorectal tumours. 16 Table 4. Selected markers for MSIanalysis in colorectal cancer and criteria for the interpretation of MSI. 16 Table 5. Cumulative lifetime risks of colorectal, endomterial, stomach, ovarian, urothelial, small bowel, biliary tract cancer and brain tumours in MLH1, MSH2 and MSH6 mutation carriers compared to the population risks. 33 Table 6. Mean age of onset of colorectal, endometrial, stomach, ovarian, urothelial, small bowel, biliary tract cancer and brain tumours in MLH1, MSH2 and MSH6 mutation carriers. 33 Table 7. Screening advises in H NPCC(-like) families. 38 Table 8. Comparison of MSI and IH C analysis in 154 tumours of 119 families analysed for MLH1, MSH2 and sometimes MSH6 mutations. 51 Table 9. Logistic regression model for selection for MSH2, MLH1 mutation analysis. 51