Maria Timofeeva

DIAS LECTURE



This lecture takes place at the DIAS seminarroom.



Genetics of Bowel Cancer. Lessons learned from the big collaborative studies and the limitations of modern science.




The talk will discuss the hurdles of collaborative science and the paradox of open science in the world of GDPR and patient protection based on experience from the international project on bowel cancer genetics. Colorectal cancer or bowel cancer is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 cancer cases and 154,587 controls of European and Asian ancestry. 205 independent risk associations, of which 50 were novel, were identified at the results of the project. We performed integrative omics analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 genes functionally linked to cancer risk, many of which had no previously established role in bowel cancer. 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. Cross-tissue analyses indicated that over a third of effector genes most likely act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies. Similarly, our 5 years’ experience of working together highlighted the differences between the studies, ethical boards, institutions and countries in handling patient data and open science policies.



Ph.D. Dr. Maria Timofeeva is an Assistant Professor at the Unit of Epidemiology, Biostatistics and Biodemography at the Department of Public Health at SDU. Her research interest is cancer epidemiology with a specific focus on genetic and molecular epidemiology of cancer and a complex interplay between genetic and environmental causes of disease.