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Approved Research

Genetic and environmental factors involved in cancer risk and prognosis

Principal Investigator: Dr Federico Canzian
Approved Research ID: 66591
Approval date: September 29th 2021

Lay summary

Our main goal is to deeply investigate how genetic and environmental factors contribute to the etiology of cancer. In the past decades hundreds of associations have been found for the most common cancers but there is still a gap between those associations and their practical applications, e.g. in risk-adapted screening or in clinical decision-making. Moreover, for rarer cancers the genetic contribution is not very clear.

We mainly aim through the UK biobank cohort to identify new genetic germline variants associated with cancer risk and outcome, taking in consideration both common and rare variants. We will analyze the variant associations individually and in groups, creating scores for each cancer and cancer subtypes, taking in consideration the interactions with known environmental and clinical factors. We also want to explore the genetic relation between cancer and chronic conditions such as some auto-immune diseases, which remains unclear.

Finally, we also aim to study the pleiotropy between different types of cancers and their related conditions by building multi-trait polygenic scores.

To compute the risk score with and without germline genetic variants, we would also like to include variables from various data fields (environmental, dietary, lifestyle, blood biomarkers, and genotyping results) that were not in our basket in the first application, such as "genotype copy number variants, log2ratios (22431)" and "genotype copy number variants B-allele frequencies (22437)". These variables will allow us to compare the performance of the genetic risk score alone, multidimensionally, and in combination with those variables. We also want some extra fields in the related outcomes to test the efficacy of our discovered best risk score calculation model across the various disease phenotypes.