Researcher Profile
Sapna Syngal, MD, MPH
Associate Professor of Medicine, Harvard Medical School
Centers/Programs
Department
Medical Oncology/Population Sciences
Area of Research
Genetics, Early Detection, and Prevention of Gastrointestinal Cancers
Contact Information
Sapna Syngal, MD, MPHDana-Farber Cancer Institute
44 Binney Street
Smith 209
Boston, MA 02115
Office phone: (617) 632-5022
Fax: (617) 632-4088
E-mail: ssyngal@partners.org
Preferred contact method: e-mail
Research
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 are currently enrolling 700 patients with colorectal cancer in a study examining the impact of a novel gene, MSH6, on colorectal cancer risk. Our preliminary data suggest that this may be the most commonly involved gene in familial colon cancer. MSH6 is a member of a family of genes involved in a mismatch repair pathway. For the past several years, our group has also studied individuals who are known to carry mutations in other mismatch repair genes, MSH2 and MLH1. Because data have shown that cancer risks are extremely high for mutation carriers of these two genes, our research has focused on methods of increasing patient compliance with screening, increasing awareness of high-risk cancer syndromes, and improving family history assessment and identification of high-risk patients.
Our group is also interested in evaluating novel genetic and other biomarkers for early cancer detection. Preliminary studies have demonstrated the feasibility of detecting a panel of mutations (including k-ras, p53, and the microsatellite marker, BAT 26) in DNA from colonocytes shed in stool. We are leading a prospective multicenter study that will examine the sensitivity of this test and determine the effect of therapy and resection as patients undergo surgery, radiation, and chemotherapy. In addition, as part of the National Cancer Institute's Early Cancer Detection Research Network, we are evaluating novel serum biomarkers for early colon cancer detection.
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.
Recent Awards
- American Gastroenterological Association Young Investigator Award, 2004
- Elected Chair, Research Committee, American College of Gastroenterology, 2003
- Fred P. Li Award for Mentoring, DFCI, 2003
- Dana-Farber Rising Star Clinical Investigator, 2000
Biography
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.
Select Publications
- Syngal S, Bandipalliam P, Boland CR. Surveillance of patients at high risk for colorectal cancer. Med Clin North Am 2005;89:61-84.
- Bandipalliam P, Balmaña J, Syngal S. Comprehensive genetic and endoscopic evaluation may be necessary to distinguish sporadic versus familial adenomatous polyposis-associated abdominal desmoid tumors. Surgery 2004;135:683-9.
- Bandipalliam P, Kolodner R, Garber J, Syngal S. Clinical presentation correlates with the type of
mismatch repair gene involved in hereditary nonpolyposis colon cancer. Gastroenterology 2004;126:936-7. - Grover S, Stoffel E, Bussone L, Tschoegl E, Syngal S. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2004;2:813-9.
- Murff HJ, Byrne D, Syngal S. Cancer risk assessment, quality and impact of the family history interview. Am J Prev Med 2004;27:239-45.
- Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 2004;22:1480-9.
- Telford J, Saltzman J, Kuntz K, Syngal S. Impact of preoperative staging and chemoradiation versus postoperative chemoradiation on outcome in patients with rectal cancer: a decision analysis.
J Natl Cancer Inst 2004;96:191-201. - Umar A, Boland R, Terdiman J, Syngal S, Chapelle A, Ruschoff J, Fishel R, Lindor N, Burgart L, Hamelin R, Hamilton S, Hiatt R, Jass J, Lindblom A, Lynch H, Pletomaki P, Ramsey S, Rodriguez-Bigas M, Vasen H, Hawk E, Barrett C, Freedman A, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-7.
- Jagadeesh D, Syngal S. Genetic testing for hereditary nonpolyposis colorectal cancer. Curr Opin Gastroenterol 2003;19:57-63.


