Clinic Director, Clinical Genetics Service
Department of Medicine
Memorial Sloan Kettering Cancer Center
New York, New York
Two decades after the initial identification of BRCA1 and BRCA2 there remains considerable uncertainty regarding cancer risks associated with inherited mutations of these genes, as well as newly discovered cancer predisposition genes. Drs. Robson and Offit are part of an international effort to identify genetic "protective factors" that modify risk of breast cancer from BRCA2 mutations. They combined these “protective factors” with other genomic markers to define a risk modifying panel to more precisely assess risk in BRCA2 mutation carriers. With colleagues in the U.K. they are analyzing samples from more than 10,000 BRCA2 mutation carriers and more than 20,000 BRCA1 mutation carriers. In the coming year they will continue to work with a behavioral scientist to devise the most effective and safest way to deploy this risk modifier panel in clinical practice. Another component of this project is an internet-based patient portal called PROMPT. This is an online registry for individuals who underwent gene panel testing to join a study aimed at improving risk assessment of newly discovered cancer risk genes. As of this year, PROMPT has enrolled 700 families from the U.S. and abroad. The investigators are now moving into the second phase of PROMPT, enrolling family members and obtaining samples. These efforts will lead to a more personalized risk assessment in high-risk families in an era where technology continues to accelerate the discovery of new cancer sucseptibility genes and the use of gene panel testing is becoming more commonplace.
Mark Robson, MD, is an Associate Attending Physician of the Clinical Genetics and Breast Medicine Service in the Department of Medicine at Memorial Sloan Kettering Cancer Center. He received his B.Sc. from Washington and Lee University and his MD from the University of Virginia. He performed residency and fellowship training at Walter Reed Army Medical center before coming to Memorial Sloan Kettering in 1996. He is currently the Clinic Director of the Clinical Genetics Service and the chair of the Cancer Genetics Subcommittee of the American Society of Clinical Oncology.
Dr. Robson's research is directed toward the improving the integration of genetic information into the clinical management of women with breast cancer. He and his colleagues have conducted a number of studies examining outcomes in women with hereditary breast cancer to better define the risks and benefits of treatments such as breast conserving therapy and adjuvant chemotherapy in this group. He and his coworkers have also conducted a number of studies examining the effectiveness of screening interventions such as breast MRI or ovarian cancer screening in women at hereditary risk. He is currently conducting studies to evaluate the impact of intensive screening or surgical prevention upon women's quality of life, and to develop new screening tools, such as serum peptide profiling.