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TABLE OF CONTENTS

LIST OF ORIGINAL PUBLICATIONS

ABBREVIATIONS

INTRODUCTION

REVIEW OF THE LITERATURE

1. Clinical features and cancer risk of hereditary polyposis syndromes 2. Molecular genetic background of polyposis syndromes

AIMS OF THE STUDY

MATERIALS AND METHODS

1. Patients and tumor samples 2. DNA and RNA extraction
3. cDNA synthesis
4. Polymerase chain reaction (PCR) 5. Denaturating gradient gel electrophoreis (DGGE)
6. Single strand conformation polymorphisms (SSCP)
7. Automated sequencing
8. Restriction enzyme analysis
9. Polyacrylamide gel electrophoresis (PAGE) analysis
10. Linkage analysis
11. Methylation analysis

RESULTS

Linkage analysis to 10q22-24
PTEN mutation analysis
Mutation analysis of SMAD4 gene in JP
Linkage analysis to 18q21
Mutation analysis of SMAD2, SMAD3 and SMAD7 in JP patients
Mutation analysis of SMAD2, SMAD3 and SMAD4 in HNPCC patients
SMAD4 promoter methylation
Mutation analysis of SMAD4 in sporadic colorectal carcinomas
Mutation analysis of SMAD4 promoter in JP patients
Mutation analysis of ALK1 and endoglin genes

DISCUSSION

Exclusion of PTEN gene as the gene predisposing to JP
SMAD4 is a gene predisposing to JP
Other candidate genes for JP
Mutation analysis of SMAD genes in HNPCC patients
SMAD4 is infrequently hypermethylated and mutated in sporadic colorectal cancers

SUMMARY

CONCLUSIONS AND FUTURE PROSPECTS

ACKNOWLEDGEMENTS

REFERENCES

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