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BCRF Grantee Since

2006

Donor Recognition

The Sandra Taub Memorial Award

Mark E. Robson, MD

Clinic Director, Clinical Genetics Service
Department of Medicine
Memorial Sloan Kettering Cancer Center
New York, New York

Current Research

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, we used a genomic scan to find genetic “protective factors.” We published our discovery of one marker, near the gene ZNF365 on chromosome 10, which decreases risk of breast cancer about 25% in BRCA2 mutation carriers. In this past year, Drs. Offit and Robson published in PLoS Genetics their analysis 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. Drs. Offit, Robson, and others also completed preliminary analysis using the “exome chip” and contributed a list of candidates to the “Oncochip” that will be used to test >600,000 cancer samples next year. Looking forward, they have recruited a behavioral scientist and have already begun work on a clinical research protocol to bring this testing for “genomic modifiers” to the clinic to inform the decisions of women at hereditary risk for breast cancer by virtue of an inherited BRCA2 mutation.

Mid-Year Summary

Dr. Robson is collaborating with Dr. Kenneth Offit to identify markers influencing risk for those carrying BRCA2 mutations. Two decades 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, the Offit-Robson team has used genomic scans to identify genetic “protective factors” near the gene ZNF365 on chromosome 10, as well as a marker on chromosome 6 near the gene TFAP2Aa, the first genetic marker found to modify risk of breast cancer only in BRCA2 mutation carriers. They are currently in the process of assembling and analyzing samples from 10,000 BRCA2 mutation carriers as part of the “Oncochip” that will be used to test >600,000 cancer samples this year. The researchers have also assembled a team including a behavioral scientist who has begun developing a clinical research protocol to bring this testing for “genomic modifiers” to the clinic to inform the decisions of women at hereditary risk for breast cancer by virtue of an inherited BRCA2 mutation.

Bio

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.

Read Dr. Robson's blog in the Huffington Post from December 11, 2012

 

Co-Investigators

MD, MPH