Over the last years, Genome-wide Association studies (GWAS) have identified thousands of variants robustly associated with different complex traits. Large scale genotyping and meta-analyses of more than 200,000 breast cancer cases and controls, mainly through the Breast Cancer Association Consortium, led to the identification of 200 loci that are associated with breast cancer susceptibility. The majority of these variants are common in the population (minor allele frequency >5%) and contribute to a small fraction of the disease risk. These variants have shown to combine in a multiplicative way and can be summarized as a polygenic risk score (PRS) that can be used to categorize women into different risk categories and thus has the potential to be used in breast cancer prevention.

In this talk, she will give a brief introduction for GWAS and then focus on discoveries in breast cancer. She will discuss PRS and post GWAS approaches such as fine mapping.

Dr Michailidou is a statistical genetic epidemiologist with extensive expertise in the analysis of large genetic and genomic datasets. She is currently an Associate Scientist and lead of the Biostatistics Unit at the Cyprus Institute of Neurology and Genetics. She trained in Mathematics (B.Sc., Aristotle University of Thessaloniki), Applied Statistics (M.Sc., University of Oxford) and Genetic Epidemiology (Ph.D., University of Cambridge).

Her research lies in the fields of statistical genetics, epidemiology and genetic epidemiology of diseases with a focus on analysis of common and rare genetic variants identified through Genome-Wide Association Studies (GWAS) and next-generation sequencing experiments. Her research involves the classification of variants of uncertain clinical significance in high-risk genes, fine mapping of loci identified through genome wide scans and Polygenic Risk Scores (PRS).

She has been involved and led the analyses of some of the largest GWAS in breast cancer conducted by the Breast Cancer Association Consortium and identified more than 100 of the current known polymorphisms that are associated with breast cancer susceptibility. She has co-authored more than 150 publications in high impact journals and is a leading author of publications in Nature, Nature Genetics, Cancer Discovery, American Journal of Human Genetics and others.

Professional website:

https://www.cing.ac.cy/en/about-us/biostatistics_unit/members-of-staff/kyriaki-michailidou