Sapna Syngal, MD, MPH
The primary goal of my research program is to study the effectiveness of novel technologies with the goal of providing individuals and their physicians new tools for preventing gastrointestinal cancers, by clarification of personal risk, use of novel screening techniques, or chemoprevention agents. One of our main areas of work has been to evaluate the impact of new genetic discoveries as tools for cancer risk assessment. After the discovery of the mismatch repair genes, MSH2 and MLH1, we were one of the first groups to evaluate the prevalence of mutations in large clinical populations, demonstrate phenotypic differences between carriers of the two genes, and evaluate management strategies for mutation carriers. In addition to genetic epidemiology, my group has made contributions to the field of risk assessment for genetic syndromes, and have highlighted necessary steps to increase physician and patient awareness of inherited cancer syndromes. We have recently developed a novel risk assessment tool to predict the likelihood of carrying mutations in MSH2 and MLH1 (the PREMM model), which is available as a web-based tool for clinicians. My group is also interested in evaluating novel genetic and other biomarkers for early cancer detection. As part of the NCI’s Early Detection Research Network (EDRN), we are validating novel biomarkers for early detection of gastrointestinal tumors in clinical populations. We have also recently expanded our work to include the genetics and early detection of pancreatic cancer and have developed the Dana-Farber Cancer Institute/Harvard Cancer Center PAGES (Pancreatic Cancer Genes Study) registry that enrolls families with pancreatic cancer collecting data on family history, risk factors, and DNA and tissue samples. We are a funded site for the National Cancer Institute PACGENE (Pancreatic Cancer Genetic Epidemiologic Consortium) study, whose mission is to identify susceptibility genes for pancreatic cancer.