Ran Elkon, PhD

About the Investigator:

Prof. Ran Elkon studies the genetic mechanisms that affect our risk for developing complex diseases. He received his BSc in Physics and MSc and PhD in Bioinformatics from Tel Aviv University. After postdoctoral training at the Netherlands Cancer Institute (NKI, Amsterdam) he returned to Tel Aviv University, and joined the Human Molecular Genetics Dept. at the School of Medicine, where he is now an Associate Professor.

About the Research:

Women who carry a mutation in the BRCA1 gene have a markedly increased risk for breast cancer (BC). Current management options for such BRCA1 carriers range from intensive early-age BC screening to risk-reducing surgical removal of the breasts and ovaries. These surgical choices are irreversible and have substantial adverse side effects. Importantly, age at BC diagnosis among BRCA1 carriers shows high variation: some develop BC before the age of 35 yrs. while other carriers remain BC-free even after the age of 60 yrs. This high variation indicates the existence of risk-modifying factors. However, our limited understanding of such modifiers precludes clinical decision-making that is based on the specific risk of each carrier. Therefore, there is a major clinical need for refined risk models for BRCA1 carriers. This is especially important in Israel, since Ashkenazi Jews (AJ) is the ethnic group with the highest prevalence of BRCA1 carriers among all the world populations.

The goal of our research is to systematically discover novel genetic BC-risk modifiers for BRCA1 carriers, thereby improving BC risk prediction models for these women. By recruiting a large cohort of Israeli AJ women who carry BRCA1 mutation and sequencing their entire genomes, we will discover a variety of genetic variants that modify BC risk for BRCA1 carriers. Together with known non-genetic BC risk factors that will be collected in our cohort, we will apply cutting-edge computational methods to build an integrative BC-risk prediction model for BRCA1 carriers. This study will constitute an essential milestone towards the implementation, in the Israeli healthcare system, of personalized risk-based decision support tools for BRCA1 carriers.