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Mark E. Robson, MD
Clinic Director, Clinical Genetics Service
Department of Medicine
Memorial Sloan Kettering Cancer Center
New York, New York
Goal: To improve the accuracy of risk prediction in individuals who carry mutations in the BRCA1 and BRCA2 genes.
Impact: Drs. Robson and Offit are conducting studies aimed at improving breast cancer risk assessment in BRCA mutation carriers. His work could help women and their doctors make more informed decisions about screening and prevention.
What’s next: In addition to continuing their current work, they will develop a platform that allows women with genetic mutations to share information about genetic testing with their family, which they hope will encourage relatives to get screened.
Mutations in the BRCA genes (BRCA1 and BRCA2) are the most common drivers of breast cancer in families with a high incidence of the disease. However, there are other genetic variants that can be used to refine a person’s BRCA-associated risk of breast cancer. Drs. Robson and Offit are focused on understanding the extent to which these variants influence risk so that BRCA mutation carriers can make more informed decisions about how to reduce their likelihood of developing breast cancer.
Full Research Summary
Research area: To improved genetic risk prediction models so women with a high risk of breast cancer can make informed decisions.
Impact: Most breast cancers are not the result of inherited mutation 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 implicated in a risk of breast cancer. Dr. Robson’s research focuses on understanding how genes influence breast cancer risk and developing strategies to precisely predict risk on an individual level. His goal is to provide more precise risk estimates so that individuals with inherited risks can make informed decisions about their health, to increase screening among family members of patients with known mutations, and determine the level of risk for enhanced screening so that the right women are getting the risk tests at the right age.
Current investigation: Drs. Robson and Offit employ advanced technologies that incorporate information from genetic tests to enhance the precision of genetic risk assessment in women with mutations in the a BRCA gene. These additional factors, called SNPs (single nucleotide polymorphisms) are tiny changes to the gene that may either reduce or increase the risk of breast cancer from BRCA mutations. They combined these factors with other genomic markers to define a risk modifying panel so that women have a better understanding of their risk of breast cancer and can make informed decisions.
What they’ve learned so far: Their group has shown that genetic testing of women for common SNPs can define polygenic risk scores (PRS) that modify the breast cancer risk caused by a BRCA1 or BRCA2 mutation. Furthermore, since fewer than half of the relatives of a woman with a mutation undergo testing themselves, a method for reaching family members to identify mutations will significantly extend the benefits of genetic testing to a greater number of family members, allowing them to protect their health.
What’s next: The group will continue their studies to validate a risk prediction score that refines the assessment of BRCA-associated risk of breast cancer. They continue to enroll volunteers into the Prospective Registry of Multiplex Testing (PROMPT), an important resource for understanding how genes influence risk. In addition, they will develop a new mobile-enabled platform that family members of women with mutations can use to inform and educate themselves about the risks and benefits of genetic testing.
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.