PAST GOALS

I am interested in translating DNA characterization to oncological care and specifically breast cancer. This includes identifying pathogenic variations causing in our breast cancer patient population1; describing the clinical aspects characterizing somatic DNA mutations2 and DNA amplicon structure3 in HER2+ breast cancer and describing novel genes in repair pathways4 that effect the treatment of triple negative breast cancer. Through collaboration with Dr Amir Eden, Prof. Shema ,Prof. Dor and Prof. Friedman new tumor markers based on cfDNA are developed5,6,7,8 and utilized in monitoring response to chemotherapy in breast cancer. In these collaborations, my role is defining the clinical need and research questions, build the clinical databases and coordinate sample collection.

PRESENT ACHIEVEMENTS

DNA characterization as part of oncological clinical care and research today is one of the leading aspects of the Hebrew University-Hadassah Medical Center. I am part of the team leading this effort, clinically by heading the molecular tumor board. By educating on the subject of molecular oncology by initiating the “cancer Hub” and teaching this subject to medical students in several courses. The research capabilities of my laboratory span different methods of massive parallel sequencing including panel sequencing, whole exome sequencing and whole genome sequencing is routinely applied on clinical samples including plasma and formalin fixed paraffin embedded tissue. In parallel, we developed the bioinformatic capabilities of extracting the pertinent data to the research question. The collaboration with different research groups, by applying these methods and those developed by other groups to clinical samples with comprehensive clinical data has established a working group with unique atmosphere and capabilities.          

FUTURE GOALS

The future research goals include, deepening the understanding of the molecular and genetic mechanisms of DNA amplification in specific patient groups such as MDM2 amplification in liposarcoma as well as in biological models such as Drosophila follicle cells. Characterization of the homologues recombination pathway by examining the germline and somatic mutation profile of specific patients’ groups such as ovarian cancer patients with no identified mutations in known cancer predisposition genes and developing rapid and affordable functional assay for homologues recombination deficiency. Developing a tumor markers and better define tumors based on tissue or  cfDNA molecular profile. Participating in a working group that aims to create a comprehensive database of oncological patients with a clinical, molecular and genetic profile as well as a tissue and plasma bank. 

The goal of the research in addition to expanding the biological and clinical knowledge is to incorporate technology developed in the Hebrew University to the clinical care of oncological patients and particularly in breast cancer patients. The work of Dr. Yarri is in line of these goals and I hope to support his efforts to develop a probe that monitors response to chemotherapy the best I can.