Sapna Syngal, MD, MPH
Director, Gastroenterology, Brigham and Women's Hospital
Associate Professor of Medicine, Harvard Medical School
Cancer Genetics & Prevention
Office phone: 617-632-5577
Preferred contact method: email
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Cancer screening and prevention, Familial cancer syndromes, Gastrointestinal cancers
Area of ResearchGenetics, 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.
- 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
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 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.
- 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.
- 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.
- Strate LL, Saltzman JR, Ookubo R, Mutinga ML, Syngal S. Validation of a clinical prediction rule for severe acute lower intestinal bleeding. Am J Gastroenterol. 2005 Aug;100(8):1821-7.
- Jo WS, Bandipalliam P, Shannon KM, Niendorf KB, Chan-Smutko G, Hur C, Syngal S., Chung DC. Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol. 2005 Oct;3(10):1022-8.
- Syngal S, Stoffel E, Chung D, Willet C, Schoetz D, Schroy P, Jagadeesh D, Morel K, Ross M. Detection of stool DNA mutations before and after treatment of colorectal neoplasia. Cancer. 2006 Jan 15;106(2):277-83.
- Wong P, Verselis SJ, Garber JESchneider K, DiGianni L, Stockwell DH, Li FP, Syngal S. Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraument syndrome. Gastroenterolgy. 2006 Jan;130(1):73-9.
- Petersen GM, de Andrade M, Goggins M, Hruban RH, Bondy M, Korczak JF, Gallinger S, Lynch HT, Syngal S, Rabe KG, Seminara D, Klein AP. Pancreatic cancer genetic epidemiology consortium. Cancer Epidemiol Biomarkers Prev. 2006 Apr;15(4):704-10.
- Ford BM, Evans JS, Stoffel EM, Balmana J, Regan MM, Syngal S. Factors associated with enrollment in cancer genetics research. Cancer Epidemiol Biomarkers Prev. 2006 Jul;15(7):1355-9
- Balmana J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, Ward B, Scholl T, Hendrickson B, Tazelaar J, Burbridge LA, Syngal S. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006 Sep 27;296(12):1469-78.
- Klein AP, de Andrade M, Hruban RH, Bondy M, Schwartz AG, Gallinger S, Lynch HT, Syngal S., Rabe KG, Goggins MG, Petersen GM. Linkage analysis of chromosome 4 in families with familial pancreatic cancer. Cancer Biol Ther. 2007 Mar;6(3):320-3. Epub 2007 Mar 15.
- Kastrinos F, Stoffel EM, Balmana J, Syngal S. Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol. 2007 Jun;102(6):1284-90. Epub 2007 Mar 13.
- Murff HJ, Greevy RA, Syngal S. The comprehensiveness of family cancer history assessments in primary care. Community Genet.2007;10(3):174-80.
- Kastrinos F, Syngal S. Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol. 2007 Oct;34(5):418-24. Review.
- Steyerberg EW, Balmana J, Stockwell DH, Syngal S. Data reduction for prediction: a case study on robust coding of age and family history for the risk of having a genetic mutation. Stat Med. 2007 Dec 30;26(30):5545-56.
- Balaguer F, Balmana J, Castellvi-Bel S, Steyerberg EW, Andreu M, Lior X, Jover R, Syngal S. Castells A; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology .2008 Jan;134(1):39-46. Epub 2007 Oct 26.
- Jagadeesh D, Syngal S. Genetic testing for hereditary nonpolyposis colorectal cancer. Curr Opin Gastroenterol 2003;19:57-63.
- 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.
- 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.
- Bandipalliam P, BalmaÃ±a 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.
- 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.
- 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.
- Syngal S, Bandipalliam P, Boland CR. Surveillance of patients at high risk for colorectal cancer. Med Clin North Am 2005;89:61-84.
- Stoffel EM, Ford B, Mercado RC, Punglia D, Kohlmann W, Conrad P, Blanco A, Shannon KM, Powell M, Gruber SB, Terdiman J, Chung DC, Syngal S. Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol. 2008 Mar;6(3):333-8. Epub 2008 Feb 7.
- Grover, Shilpa, MD, MPH
- Stoffel, Elena M., MD, MPH
- Masciari, Serena, MD
- Mopala, Radhika, MD
- Ojha, Rohit, MPH