Sapna Syngal, MD, MPH
Director, Gastrointestinal Cancer Genetics and Prevention Clinics
Director, Gastroenterology, Brigham and Women's Hospital
Professor of Medicine, Harvard Medical School
Cancer Genetics and Prevention
Office phone: 617-632-6164
View Physician Profile
Cancer screening and prevention, Familial cancer syndromes, Gastrointestinal cancers
Area of Research
Genetics, Early Detection, and Prevention of Gastrointestinal Cancers
Dana-Farber Cancer Institute
450 Brookline Avenue
Boston, MA 02215
Dr. Syngal received her MD from McGill University in 1990 and completed her clinical training in Internal Medicine and Gastroenterology at Brigham and Women's Hospital. She received her MPH from Harvard School of Public Health and completed a research fellowship at the Harvard Education Program in Cancer Prevention. She joined DFCI in 1995.
- Lifetime Achievement Award from The Collaborative Group of the Americas, 2012
- Partners in Excellence Team Award from Brigham and Women's Hospital, 2011
- Elected as a member to The Amercian Society for Clinical Investigation, 2009
ResearchGenetics, Early Detection, and Prevention of Gastrointestinal Cancers
Basic laboratory research, technology, and the pharmaceutical industry are creating a vast array of new diagnostic tests and potential therapies for cancer. Our research program focuses on studying the effectiveness of these technologies with the goal of providing individuals and their physicians with new cancer-prevention tools that include clarification of personal risk, primary prevention, novel screening techniques, and new chemotherapeutic agents.
One of the main goals of our research group is to evaluate the impact of genetic discoveries as tools for cancer risk assessment. We have designed a web-based risk assessment tool called PREMM which providers can use at no cost to determine the utility of recommending genetic testing for Lynch syndrome. Currently, we are piloting a self-administered version of this tool to patients in a primary care practice with the aim of promoting a patient-centered approach to the management of hereditary colon cancer syndromes. We are also working on expanding this clinical prediction model to include other hereditary colon cancer syndromes.
Our group is also interested in evaluating novel genetic and other biomarkers for early cancer detection as well as cancer prevention modalities. As part of the National Cancer Institute's Early Cancer Detection Research Network, we are participating in an ongoing multicenter study evaluating novel serum biomarkers for early colon cancer detection. In addition, we are also part of a multicenter clinical trial evaluating a pharmacological agent that may defer the need for surgical intervention in patients with known Familial Adenomatous Polyposis syndrome.
Since expanding our research to include the genetics and early detection of pancreatic cancer, we have developed the Dana-Farber/Harvard Cancer Center Pancreatic Cancer Genes Study registry, which collects data on family history and epidemiologic risk factors, as well as DNA and tissue samples. We are a funded site for the National Cancer Institute Pancreatic Cancer Genetic Epidemiologic Consortium study, whose mission is to identify susceptibility genes for pancreatic cancer to improve risk assessment and early detection.
- Syngal S, Fox EA, Li C, Dovidio M, Eng C, Kolodner RD, Garber JE. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. JAMA. 1999 Jul 21;282(3):247-53.
- Balmaña J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, Ward B, Scholl T, Hendrickson B, Tazelaar J, Burbidge LA, Syngal S. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006 Sep 27;296(12):1469-78.
- Kastrinos F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond VM, Bandipalliam P, Stoffel EM, Gruber SB, Syngal S. Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009 Oct 28;302(16):1790-5.
- Kastrinos F, Steyerberg EW, Mercado R, Balmaña J, Holter S, Gallinger S, Siegmund KD, Church JM, Jenkins MA, Lindor NM, Thibodeau SN, Burbidge LA, Wenstrup RJ, Syngal S. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology. 2011 Jan;140(1):73-81.
- Grover S, Kastrinos F, Steyerberg EW, Cook EF, Dewanwala A, Burbidge LA, Wenstrup RJ, Syngal S. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA. 2012 Aug 1;308(5):485-92.
- Inra, Jennifer, MD
- Nayor, Jennifer, MD
- Nissim, Sahar, MD, PhD