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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
Seeking new tools to improve the accuracy of risk prediction in BRCA1 and BRCA2 mutation carriers.
Efforts are ongoing to validate a risk prediction score that refines the assessment of BRCA-associated risk of breast cancer.
These efforts will lead to a more personalized risk assessment in high-risk families.
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.
Full Research Summary
Two decades after the initial identification of BRCA1 and BRCA2, considerable uncertainty remains regarding cancer risks associated with inherited mutations of these genes, as well as newly discovered cancer predisposition genes.
Drs. Robson and Offit employ new advances in the understanding of inherited risks for breast cancer 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.
Using this information, the team can now give these patients a risk estimate that is predicted based on their own genetic background, which may reduce the conflict that they feel when making the critical decision regarding a choice between surveillance and preventive surgery.
The team continues to utilize use an online registry called PROMPT (Prospective Registry of Multiplex Testing) to recruit individuals with mutations in genes other than BRCA1 and BRCA2. This work focuses on developing a model to identify the best age at which to begin screening women who underwent gene panel testing and to compare the relative benefit of MRI-based screening compared to a mammogram alone.
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.