Mark E. Robson, MD
2012-2013 BCRF Project:
The Sandra Taub Memorial Award
Associate Attending Physician
Clinical Genetics and Breast Cancer Medicine Services
Department of Medicine
Memorial Sloan-Kettering Cancer Center
New York, New York
>> Read Dr. Robson's blog in the Huffington Post from December 11, 2012
Co-Investigator: Kenneth Offit, MD
, Memorial Sloan-Kettering Cancer Center, New York
A decade and a half after the initial identification of BRCA1 and BRCA2 there remains considerable uncertainty regarding cancer risks associated with inherited mutations of these genes. The basis of this variation of risk is most striking for BRCA2, and affects clinical management: patients with the same BRCA2 mutation will develop breast, ovarian, or other cancers at different ages or not at all.
In this international study, Drs. Offit and Robson have used a genomic scan to find genetic "protective factors." They published their discovery of one marker, near the gene ZNF365 on chromosome 10, which decreases risk of breast cancer about 25% in BRCA2 mutation carriers. This year, they have completed an analysis of 15,000 additional genetic markers in their sample set of ~10,000 BRCA2 carriers worldwide and identified the first genetic marker found to modify risk of breast cancer only in BRCA2 mutation carriers. This marker on chromosome 6 near the gene TFAP2A was associated with a 15% reduction in breast cancer risk in BRCA2 mutation carriers. Over the next year, this team will look for rare genetic variants that modify BRCA2 breast and ovarian cancer risk. They are also preparing to implement, in a research context, the first important steps toward actually bringing this additional testing to the clinic to inform the decisions of women at hereditary risk for breast cancer by virtue of an inherited BRCA mutation.
Mid-year Progress: The research team led by Drs. Offit and Robson continue to collect and send samples for analysis of rare genetic variants that modify BRCA2 breast and ovarian cancer risk. They will also be carrying out a second scan for common variants. They have successfully recruited a behavioral scientist who will arrive this spring to implement, in a research context, the first important steps toward actually bringing this additional testing to the clinic to inform the decisions of women at hereditary risk for breast cancer by virtue of an inherited BRCA mutation.
Mark Robson, MD, is an Associate Attending Physician of the Clinical Genetics and Breast Cancer Medicine Services in the Department of Medicine at Memorial Sloan-Kettering Cancer Center. He received his B.Sc. from Washington and Lee University and his M.D. 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.