2013 Recipient — Simon Gayther, PhD

Simon Gayther headshot

Simon Gayther, PhD

Functional Analysis of Genetic Susceptibility Loci to Identify Biomarkers and Candidate Genes Associated with Ovarian Cancer Initiation, Progression and Outcome

Project Summary

Genetic factors can increase a woman’s chance of getting ovarian cancer; they can also affect how well a woman responds to treatment when she has been diagnosed with ovarian cancer. Working as part of a large international team, the three principle investigators of this proposal have identified and characterized multiple genetic factors that can influence both a woman’s risk of developing ovarian cancer and the chance of survival after a diagnosis of ovarian cancer.

However, understanding how these genetic factors cause ovarian cancer and affect its treatment is largely unknown. Such an understanding requires a wide range of different expertise and an integrated research program; but the potential rewards and benefits of this research are substantial. As an example, two genes BRCA1 and BRCA2, identified in the mid-90s, significantly increase ovarian cancer risk; but understanding their function and clinical significance has led to intervention strategies to prevent ovarian cancer and novel therapeutic strategies to treat ovarian cancer. Undoubtedly their finding has saved countless lives.

We aim to use resources, methodologies and technologies we have developed over the last few years to understand the function of novel genetic markers for ovarian cancer we have already found, and to discover additional markers that affect risk and survival in ovarian cancer patients. These studies will likely lead to the discovery of genes that are responsible for the early stage development of ovarian cancer, which could lead to the development of novel biomarkers for early detection and prevention of the disease; and also the discovery of genes that could lead to the development of novel therapies for treating ovarian cancers. Overall the goal of this research is significantly reduce mortality in women resulting from ovarian cancer.


  • Ellen Goode, PhD – 
Mayo Clinic
  • Alvaro Monetiro, Ph _ D
H. Lee Moffitt Cancer Center

This grant was made possible in part thought the generous support of the Smith Family, in memory of Kathryn Sladek Smith.

Areas of Research:


Simon Gayther, PhD, received his postgraduate degree in Cancer Genetics from University College London (UCL) in the UK. He undertook his postgraduate training at Cambridge University, UK, before returning to UCL as Faculty in 2004. He moved to the USA in 2010, first to the University of Southern California as Full Professor and then to Cedars Sinai Medical Center in 2015 where he is currently Professor in the Department of Biomedical Sciences, Director of Molecular Epidemiology, Director of the Center for Bioinformatics and Functional Genomics and Co-Director of the Applied Genomics, Computational and Translational Core. Throughout his career, his laboratory work has focused on cancer genetics and understanding the function of genetic risk alleles that cause ovarian and breast cancers. His research has been funded by the Medical Research Council (MRC) and Cancer Research UK (CRUK) in the UK, and by the NIH, the Department of Defense, Ovarian Cancer Research Alliance, and other cancer foundations in the USA

Dr. Gayther’s research has primarily focused on understanding the genetic events associated with risk, initiation and development of ovarian and breast cancers. Initially his work focused on the the highly penetrant BRCA1 and BRCA2 genes and their role in familial ovarian and breast cancers, which led to studies to identify additional genetic risk factors for ovarian cancer in the population, including the BRCA complex of genes using targeted sequencing approaches and common low penetrance risk alleles using genome wide association studies. Tying all of this together have been studies to characterize function and novel mechanisms underlying high, moderate and low risk alleles in the development of ovarian and breast cancers, specifically in vitro cell modeling of different protein coding risk variants, and epigenomic and transcriptomic modeling of non-coding risk alleles. Dr Gayther is principal investigator on several population based efforts to discover additional risk alleles for both ovarian and breast cancer and to establish their functional role in carcinogenesis. His overall goal is to reduce the burden of ovarian and breast cancer in the population by integrating omics methods for the identification of genetic risk factors with effective prevention strategies.