Dr Zsofia Kote-Jarai is a senior staff scientist in the Division of Genetics and Epidemiology. Dr Kote-Jarai has led and supported numerous research projects with the aim of identifying key elements of genetic predisposition to prostate cancer. Alongside Professor Ros Eeles and many other UK and international colleagues in the PRACTICAL Consortium, she has coordinated a large multistage genome-wide association study (GWAS) which has identified many common genetic variants affecting prostate cancer risk and led to several high-impact publications.

Dr Kote-Jarai’s work has focused on identifying common genetic variants affecting the risk of prostate cancer. She coordinated a large multistage GWAS which identified many common genetic variants and led to a major publication in Nature Genetics. She is currently leading projects using fine-mapping and pathway analysis to better understand the molecular basis through which these newly identified genetic variants modulate prostate cancer risk.

To identify rarer germline susceptibility variants, the group is using targeted next-generation sequencing (NGS) approaches, either by sequencing whole exomes or a selected set of candidate genes in cohorts enriched for family history of prostate cancer or advanced disease. The group has previously found that the breast cancer gene BRCA2 also predisposes to prostate cancer and is now extending this observation to investigate whether germline mutations in additional genes in related pathways also predispose to the disease. This project also seeks to establish whether specific mutations give rise to particular disease phenotypes; especially whether certain germline mutational signatures can be correlated with predisposition to more aggressive disease.

Currently Dr Kote-Jarai is one of the leaders of a large international GWAS follow-up study (OncoArray), analysing 600,000 variants in approximately 100,000 samples, which will identify further common predisposition variants. These, alongside the rare variants being discovered by the NGS studies, will have the potential to explain a significant proportion of prostate cancer heritability, and ultimately could enable targeted screening and intervention strategies to identify men who are at higher risk of developing clinically significant disease.