Mark E. Robson, MD, FASCO
New York, New York
Chief, Breast Medicine Service
Professor of Medicine,
Weill Cornell Medical College
Memorial Sloan Kettering Cancer Center
New York, New York
Understanding how genes influence breast cancer risk and developing more precise risk estimates to guide personalized screening and risk reduction strategies.
Most breast cancers are not the result of inherited mutations in cancer causing genes. For families with a high incidence of breast cancer, however, a genetic component may underlie an inherited risk. The BRCA genes (BRCA1 and BRCA2) are the most common of these inherited mutations, but scientists have uncovered many more genes that may be implicated in an increased risk of breast cancer. Testing for mutations in BRCA1, BRCA2, and other susceptibility genes has become nearly routine, and will become more so in the years to come. Despite this, there is little guidance available to doctors in how to provide the best care for women with a genetic sucseptibility to breast cancer. Dr. Robson and his team employ advanced technologies that incorporate information from genetic tests to enhance the precision of genetic risk assessment in women with mutations in a BRCA or other susceptibility gene. This includes utilizing genomic markers to define a risk modifying panel, called polygenic risk score (PRS) to help women gain a better understanding of their breast cancer risk which can lead to more informed decisions about their care.
The overarching goal of the project is to improve the care of women with an inherited predisposition to breast cancer. In the last year, Dr. Robson’s team has determined that MRI screening starting at age 30 and mammograms at 40 provides provide the best balance of risks and benefits in women with mutations in “moderate penetrance genes"—genes that when mutated increase the risk of breast cancer, but not as much as the BRCA genes mutations do. Another area of his BCRF-supported research explores whether PRS can be used to calculate individualized risk estimates to help women with BRCA mutations make the difficult decision whether to pursue a prophylactic mastectomy or screening with MRI and mammograms. At the other end of the cancer care continuum, they are studying the mechanisms of resistance to of a class of drugs called PARP inhibitors used to treat metastatic breast and ovarian cancer in women with inherited BRCA mutations. While these drugs may be very effective at first, tumors often develop resistance to the therapy.
Dr. Robson’s team is currently recruiting to their study of polygenic risk scores to determine how relaying this information to BRCA mutation carriers may or may not influence their subsequent decisions and choices about screening and prevention. In separate, but related work, Dr. Robson is developing a risk prediction score to identify women at risk for aggressive breast cancers. Read more about this work and the Precision Prevention Initiative here.
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 BSc 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.
When you give to BCRF, you're funding critical hours in the lab. More time for research means longer, healthier lives for the ones we love.