Lynch syndrome is the most common hereditary cancer predisposing syndrome and is caused by germline defects in genes involved in DNA repair. One allele is defective from birth in every cell of the individual, which together with other inherited or acquired molecular changes can make DNA repair fail, resulting in an increased cancer risk. Studies have shown that even a half of Lynch syndrome-associated colorectal cancer precursors have a functional DNA repair, suggesting other mechanisms to initiate tumorigenesis. This study aims to discover constitutional and acquired (epi)genetic mechanisms accelerating or initiating tumor development, which still remain obscure. Study material is consisted of patients' tissue specimens, and methods include RNA and DNA sequencing, and DNA methylation analyses. The study is carried out in the University of Helsinki, at the Department of Medical and Clinical Genetics of the Faculty of Medicine.

2020

2024