Introduction to molecular and clinical genetics of colorectal cancer syndromes

The understanding of molecular genetics in the field of gastroenterology has rapidly grown over the last two decades. In recent years many genes involved in the disorders of the gastrointestinal (GI) tract such as colorectal cancer (CRC) and inflammatory bowel disease have been identified. The elucidation of the molecular genetics of these diseases made it possible to study the high-penetrance susceptibility genes for disease-causing mutations with direct implications for relatives of affected individuals. The most immediate application of these advances is the opportunity of pre-symptomatic diagnosis in relatives of affected individuals by molecular genetic testing. In this article, the most commonly employed mutation detection procedures; the outcome and use of these tests in clinical practice are discussed. We focus on the three most common hereditary colorectal cancer syndromes (CCS): Lynch syndrome, familial adenomatous polyposis and MUTYH-associated polyposis.