Heterozygous carriers of a pathogenic variant in the mismatch repair genes have an increased risk to develop colorectal cancer and various other types of cancer during adulthood. This cancer... Show moreHeterozygous carriers of a pathogenic variant in the mismatch repair genes have an increased risk to develop colorectal cancer and various other types of cancer during adulthood. This cancer predisposition syndrome is called Lynch syndrome. Children who carry a mutation on both copies of a mismatch repair gene develop malignancies during childhood or adolescence. This syndrome is called constitutional mismatch repair deficiency (CMMRD). The aim of this thesis is 1) to provide insights that may help in the identification of patients with Lynch syndrome and CMMRD, and 2) to further elucidate the phenotype and potential modifying factors that result from carrying a germline pathogenic variant in one of the mismatch repair genes. Both aims are important to further facilitate adequate detection and surveillance. Show less
