Published 03. 01. 2023
At the end of the past year, the prestigious journal Nature Genetics (IF 41.379) published the article "Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries", co-authored by scientists from the Department of Molecular Biology of Cancer, namely MUDr. Pavel Vodička, CSc., DSc. and Ing. Veronika Vymetálková, Ph.D., and MUDr. Ludmila Vodičková, CSc.
Colorectal cancer (CRC) is a leading cause of mortality worldwide. Scientists conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. They performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. Scientists identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. These findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies.
Full article can be found on the website: https://www.nature.com/articles/s41588-022-01222-9