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Working for inheritors of higher risk

Annual Report - Annual Report - Winter 2014

By Katrina Burton

People with inherited conditions that raise their risk of developing certain cancers, such as colon cancer, deal with a lot of anxiety that comes from uncertainty about their health. Hopefully, the work of Eduardo Vilar-Sanchez will one day alleviate that risk.

Identifying targeted preventive therapies in the lab and transferring those discoveries to the clinic have long been a focus of Vilar-Sanchez, M.D., Ph.D., assistant professor in Clinical Cancer Prevention.

Eduardo Vilar-Sanchez, M.D., Ph.D, and Paul Scheet, Ph.D.
Photographer: Wyatt McSpadden

His primary research focuses on those who are genetically susceptible to colorectal cancer. Vilar-Sanchez and Paul Scheet, Ph.D., associate professor in Epidemiology, are using the latest genomic technologies to study premalignant lesions (polyps) in the large bowel.

“We know that polyps are the first step in the process that leads to colon cancer development,” Vilar-Sanchez says.

Familial adenomatous polyposis (FAP) is a genetic condition in which hundreds to thousands of polyps form in the colon and rectum. If left untreated, polyps become malignant.

“Among the general population, the vast majority of polyps detected during a colonoscopy are benign or still at premalignant stages of development,” Vilar-Sanchez says. “But we still need to better understand the biological mechanisms that transform these polyps into cancer. This is especially important for people with FAP because they grow hundreds of polyps. Therefore the chances of polyps becoming cancer are very high.”

With seed funding from the Duncan Family Institute for Cancer Prevention and Risk Assessment, Vilar-Sanchez and his team are examining polyps from FAP patients to develop preventive strategies and stop their growth.

His other research interest focuses on Lynch syndrome — a rare inherited condition caused by a germline mutation in genes responsible for repairing mistakes in DNA. This research, supported by the Feinberg Family Gift, is a collaborative research study with Albert Einstein College of Medicine in New York. Vilar-Sanchez and his team are using genetically engineered mice to identify and develop new chemoprevention drugs to target this disease.

“We need to determine which drug, or combination of commonly used drugs, will most effectively stop the development of polyps in Lynch syndrome patients,” he says.

But his research program has a broader goal. Vilar-Sanchez says not only will his studies benefit those with a high risk of colon cancer because of inherited conditions, but also the discoveries have the potential to help those with an average risk.

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