The major focus of Dr. Syngal's career has been the development of research, clinical and training programs focusing on the genetics, screening, and prevention of gastrointestinal malignancies.
Dr. Syngal has created research programs that study the effectiveness of novel technologies with the goal of providing patients and physicians with new tools for preventing cancer through clarification of personal risk, early detection, and the use of novel screening techniques. Her main research focus has been to evaluate the impact of new genetic discoveries as tools for cancer risk assessment and the study of genetic epidemiology of colorectal cancer. With the discovery of the mismatch repair genes, MSH2 and MLH1, she led one of the first groups to evaluate the prevalence of mutations in large clinical populations, demonstrating phenotypic differences between carriers of the two genes. Her group also reported a high prevalence of colorectal cancer in patients with germline mutations in the TP53 gene, leading to the inclusion of colonoscopy screening into the National Comprehensive Cancer Network guidelines for care of patients with the Li-Fraumeni syndrome. She has also made major contributions to the field of risk assessment for genetic syndromes through the development of a novel risk assessment web-based tool (the PREMM model) to predict the likelihood of carrying mutations in the MSH2, MLH1, and MSH6 genes.
In addition to her programâ€™s primary research, Dr. Syngal has been the site-PI for multiple national consortiums. She runs a funded site for the National Cancer Institute Pancreatic Cancer Genetic Epidemiologic (PACGENE) consortium, where the mission is to identify susceptibility genes for pancreatic cancer in order to improve risk assessment and early detection. As part of the National Cancer Instituteâ€™s Early Detection Research Network (EDRN), her group has been evaluating novel biomarkers for early colon cancer and other gastrointestinal tumor detection for the past ten years. The program is also a site for the Cancer of the Pancreas Screening (CAPS) consortium, evaluating novel imaging and endoscopic approaches to screen for early pancreatic neoplasia in high risk families.
The Gastrointestinal Cancer Genetics and Prevention Program that she has built over her career has shown tremendous growth in recent years, with the addition of several new faculty members, as well as new trainees. The clinical program has grown steadily and annually, offering care to a wide variety of patients, including those with Lynch Syndrome, Familial Adenomatous Polyposis, Hamartomatous Polyposis, and hereditary pancreatic cancer. She plans continued growth in the scope of research in the next several years, with expansion of the cancer risk assessment models to include other cancer types beyond colorectal cancer, and inclusion of genetic test results of panels on multiple genes that will allow comprehensive risk assessment for all cancers based on personal and family history.