"Can we predict cancer risk and survival from gene expression?A Danish twin study" by Maria Timofeeva

Mee, R. (Participant)

Activity: Attending an eventConference organisation or participation


Over the last several decades thousands of genetic variants have been identified to be associated with common diseases and traits including cancers. These findings provide a unique way to discover the causal biological mechanisms without no prior biological hypothesis and already have given us important insights into underlying bases of many cancer types. Many of these genetic variants are also expression quantitative traits loci, which means they correlate with gene expression. Gene expression is the process by which the information in a gene is converted into a functional gene product (RNA and proteins). It has been suggested that many of the genetic variants influence disease risk though modulating gene expression. Lifestyle choices and environment have an impact on gene expression too, bringing gene regulation and expression to the forefront of interactions between nature and nurture. Understanding causal relationships between gene expression and cancer outcomes has potential for identification of novel drug targets as well as developing targeted screening programmes for the high-risk populations.

However, analysis of gene expression has not been always possible in populational based studies. High cost of whole genome analysis, poor availability of biological samples collected prior to disease onset and complex nature of gene expression make it extremely difficult. This is where twin design offers a powerful tool to study association between gene expression and cancer outcomes.

In my talk I will demonstrate how bringing together genetic and gene expression association studies can shed light on function of candidate genes using an example of a recent genome-wide association study on colorectal cancer. I will also present my vision how some of these questions can be addressed using the Danish twin registry.

Maria Timofeeva
D-IAS, Danish Institute for Advanced Study,
Epidemiology, Biostatistics and Biodemography, Department of Public Health,
Period22. Apr 2020
Event typeSeminar
LocationOdense, Denmark
Degree of RecognitionLocal