Photo of Sapna Syngal,  MD, MPH

Sapna Syngal, MD, MPH

Brigham And Women's Hospital

Brigham And Women's Hospital
Phone: (617) 632-6164
Fax: (617) 632-4088

Sapna Syngal, MD, MPH

Brigham And Women's Hospital


  • Professor, Medicine, Harvard Medical School
  • Associate Physician, Medicine, Brigham And Women's Hospital
  • Director, Gastroenterology, DFCI/BWH Cancer Center, Medical Oncology, Dana-Farber Cancer Institute
  • Director, GI Cancer Genetics and Prevention Program, Medical Oncology, Dana-Farber Cancer Institute


Research Abstract

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 program’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 Institute’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.



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  • Hunter JE, Zepp JM, Gilmore MJ, Davis JV, Esterberg EJ, Muessig KR, Peterson SK, Syngal S, Acheson LS, Wiesner GL, Reiss JA, Goddard KA. Universal tumor screening for lynch syndrome: Assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers. Cancer 2015. PubMed
  • Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S. Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients with Suspected Lynch Syndrome. Gastroenterology 2015. PubMed
  • Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, Gallinger S, Hopper JL, Jenkins MA, Buchanan DD, Newcomb PA, Potter JD, Haile RW, Kucherlapati R, Syngal S, . Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. JAMA Oncol 2015. PubMed
  • Shin EJ, Topazian M, Goggins MG, Syngal S, Saltzman JR, Lee JH, Farrell JJ, Canto MI. Linear-array EUS improves detection of pancreatic lesions in high-risk individuals: a randomized tandem study. Gastrointest Endosc 2015. PubMed
  • Schneider JL, Davis J, Kauffman TL, Reiss JA, McGinley C, Arnold K, Zepp J, Gilmore M, Muessig KR, Syngal S, Acheson L, Wiesner GL, Peterson SK, Goddard KA. Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators. Genet Med 2015. PubMed
  • Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM. PMS2 monoallelic mutation carriers: the known unknown. Genet Med 2015. PubMed
  • Rastegar N, Matteoni-Athayde LG, Eng J, Takahashi N, Tamm EP, Mortele KJ, Syngal S, Margolis D, Lennon AM, Wolfgang CL, Fishman EK, Hruban RH, Goggins M, Canto MI, Kamel IR. Incremental value of secretin-enhanced magnetic resonance cholangiopancreatography in detecting ductal communication in a population with high prevalence of small pancreatic cysts. Eur J Radiol 2015; 84:575-80. PubMed
  • Inra JA, Syngal S. Colorectal cancer in young adults. Dig Dis Sci 2015; 60:722-33. PubMed
  • Inra JA, Steyerberg EW, Grover S, McFarland A, Syngal S, Kastrinos F. Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. Genet Med 2015. PubMed
  • Underhill M, Berry D, Dalton E, Schienda J, Syngal S. Patient experiences living with pancreatic cancer risk. Hered Cancer Clin Pract 2015; 13:13. PubMed
  • Eshleman JR, Norris AL, Sadakari Y, Debeljak M, Borges M, Harrington C, Lin E, Brant A, Barkley T, Almario JA, Topazian M, Farrell J, Syngal S, Lee JH, Yu J, Hruban RH, Kanda M, Canto MI, Goggins M. KRAS and Guanine Nucleotide-Binding Protein Mutations in Pancreatic Juice Collected From the Duodenum of Patients at High Risk for Neoplasia Undergoing Endoscopic Ultrasound. Clin Gastroenterol Hepatol 2015. PubMed
  • Zhen DB, Rabe KG, Gallinger S, Syngal S, Schwartz AG, Goggins MG, Hruban RH, Cote ML, McWilliams RR, Roberts NJ, Cannon-Albright LA, Li D, Moyes K, Wenstrup RJ, Hartman AR, Seminara D, Klein AP, Petersen GM. BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. Genet Med 2014. PubMed
  • Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the U.S. Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2014; 80:197-220. PubMed
  • Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am J Gastroenterol 2014; 109:1159-79. PubMed
  • Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. Dis Colon Rectum 2014; 57:1025-48. PubMed
  • Everett JN, Raymond VM, Dandapani M, Marvin M, Kohlmann W, Chittenden A, Koeppe E, Gustafson SL, Else T, Fullen DR, Johnson TM, Syngal S, Gruber SB, Stoffel EM. Screening for Germline Mismatch Repair Mutations Following Diagnosis of Sebaceous Neoplasm. JAMA Dermatol 2014. PubMed
  • Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, Kohlmann W, Lindor NM, Mulvey TM, Robinson L, Rubinstein WS, Stoffel EM, Snyder C, Syngal S, Merrill JK, Wollins DS, Hughes KS, . American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. J Clin Oncol 2014; 32:833-40. PubMed
  • Ma T, Jang EJ, Zukerberg LR, Odze R, Gala MK, Kelsey PB, Forcione DG, Brugge WR, Casey BW, Syngal S, Chung DC. Recurrences are common after endoscopic ampullectomy for adenoma in the familial adenomatous polyposis (FAP) syndrome. Surg Endosc 2014. PubMed
  • Greaney ML, Puleo E, Sprunck-Harrild K, Syngal S, Suarez EG, Emmons KM. Changes in colorectal cancer screening intention among people aged 18-49 in the United States. BMC Public Health 2014; 14:901. PubMed
  • Yurgelun MB, Hornick JL, Curry VK, Ukaegbu CI, Brown EK, Hiller E, Chittenden A, Goldberg JE, Syngal S. Therapy-Associated Polyposis as a Late Sequela of Cancer Treatment. Clin Gastroenterol Hepatol 2014. PubMed
  • Perencevich M, Ojha RP, Steyerberg EW, Syngal S. Racial and ethnic variations in the effects of family history of colorectal cancer on screening compliance. Gastroenterology 2013; 145:775-81.e2. PubMed
  • Kastrinos F, Balmaña J, Syngal S. Prediction models in Lynch syndrome. Fam Cancer 2013. PubMed
  • Raymond VM, Mukherjee B, Wang F, Huang SC, Stoffel EM, Kastrinos F, Syngal S, Cooney KA, Gruber SB. Elevated Risk of Prostate Cancer Among Men With Lynch Syndrome. J Clin Oncol 2013. PubMed
  • Yurgelun MB, Mercado R, Rosenblatt M, Dandapani M, Kohlmann W, Conrad P, Blanco A, Shannon KM, Chung DC, Terdiman J, Gruber SB, Garber JE, Syngal S, Stoffel EM. Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome. Gynecol Oncol 2012; 127:544-51. PubMed
  • Kanda M, Sadakari Y, Borges M, Topazian M, Farrell J, Syngal S, Lee J, Kamel I, Lennon AM, Knight S, Fujiwara S, Hruban RH, Canto MI, Goggins M. Mutant TP53 in Duodenal Samples of Pancreatic Juice From Patients With Pancreatic Cancer or High-Grade Dysplasia. Clin Gastroenterol Hepatol 2013. PubMed
  • Kanda M, Knight S, Topazian M, Syngal S, Farrell J, Lee J, Kamel I, Lennon AM, Borges M, Young A, Fujiwara S, Seike J, Eshleman J, Hruban RH, Canto MI, Goggins M. Mutant GNAS detected in duodenal collections of secretin-stimulated pancreatic juice indicates the presence or emergence of pancreatic cysts. Gut 2012. PubMed
  • Al-Sukhni W, Joe S, Lionel AC, Zwingerman N, Zogopoulos G, Marshall CR, Borgida A, Holter S, Gropper A, Moore S, Bondy M, Klein AP, Petersen GM, Rabe KG, Schwartz AG, Syngal S, Scherer SW, Gallinger S. Identification of germline genomic copy number variation in familial pancreatic cancer. Hum Genet 2012; 131:1481-94. PubMed
  • 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; 308:485-92. PubMed
  • Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ. Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat 2011; 32:407-14. PubMed
  • Levy DE, Byfield SD, Comstock CB, Garber JE, Syngal S, Crown WH, Shields AE. Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk. Genet Med 2011; 13:349-355. PubMed
  • 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 2010; 140:73-81.e5. PubMed
  • Dinh TA, Rosner BI, Atwood JC, Boland CR, Syngal S, Vasen HF, Gruber SB, Burt RW. Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila Pa) 2011; 4:9-22. PubMed
  • Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Büttner R, Verwiel ET, van Krieken JH, Nagtegaal ID, Goossens M, van der Post RS, Niessen RC, Sijmons RH, Kluijt I, Hogervorst FB, Leter EM, Gille JJ, Aalfs CM, Redeker EJ, Hes FJ, Tops CM, van Nesselrooij BP, van Gijn ME, Gómez García EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Oláh E, Chan TL, Leung SY, van Kessel AG, Kiemeney LA, Hoogerbrugge N, Ligtenberg MJ. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 2011; 12:49-55. PubMed
  • Grover S, Syngal S. Hereditary pancreatic cancer. Gastroenterology 2010; 139:1076-80, 1080.e1-2. PubMed
  • Stoffel EM, Mercado RC, Kohlmann W, Ford B, Grover S, Conrad P, Blanco A, Shannon KM, Powell M, Chung DC, Terdiman J, Gruber SB, Syngal S. Prevalence and Predictors of Appropriate Colorectal Cancer Surveillance in Lynch Syndrome. Am J Gastroenterol 2010; 105:1851-60. PubMed
  • Goel A, Xicola RM, Nguyen TP, Doyle BJ, Sohn VR, Bandipalliam P, Reyes J, Cordero C, Balaguer F, Castells A, Jover R, Andreu M, Syngal S, Boland CR, Llor X. Aberrant DNA Methylation in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency. Gastroenterology 2010; 138:1854-62. PubMed
  • Grover S, Syngal S. Risk assessment, genetic testing, and management of Lynch syndrome. J Natl Compr Canc Netw 2010; 8:98-105. PubMed
  • Stoffel E, Mukherjee B, Raymond VM, Tayob N, Kastrinos F, Sparr J, Wang F, Bandipalliam P, Syngal S, Gruber SB. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009; 137:1621-7. PubMed
  • 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; 302:1790-5. PubMed
  • Shelton RC,Puleo E,Syngal S,Emmons KM. Multivitamin use among multi-ethnic, low-income adults. Cancer Causes Control 2010; 20:1271-80. PubMed
  • Mueller J, Gazzoli I, Bandipalliam P, Garber JE, Syngal S, Kolodner RD. Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res 2009; 69:7053-61. PubMed
  • Grover S, Stoffel EM, Mercado RC, Ford BM, Kohlman WK, Shannon KM, Conrad PG, Blanco AM, Terdiman JP, Gruber SB, Chung DC, Syngal S. Colorectal cancer risk perception on the basis of genetic test results in individuals at risk for Lynch syndrome. J Clin Oncol 2009; 27:3981-6. PubMed
  • Kastrinos F, Allen JI, Stockwell DH, Stoffel EM, Cook EF, Mutinga ML, Balmaña J, Syngal S. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol 2009; 104:1508-18. PubMed
  • Sparr JA,Bandipalliam P,Redston MS,Syngal S. Intraductal papillary mucinous neoplasm of the pancreas with loss of mismatch repair in a patient with Lynch syndrome. Am J Surg Pathol 2008; 33:309-12. PubMed
  • Emmons KM,Lobb R,Puleo E,Bennett G,Stoffel E,Syngal S. Colorectal cancer screening: prevalence among low-income groups with health insurance. Health Aff (Millwood) 2009; 28:169-77. PubMed
  • Grover S,Syngal S. Genetic testing in gastroenterology: Lynch syndrome. Best Pract Res Clin Gastroenterol 2009; 23:185-96. PubMed
  • Stoffel EM,Turgeon DK,Stockwell DH,Normolle DP,Tuck MK,Marcon NE,Baron JA,Bresalier RS,Arber N,Ruffin MT,Syngal S,Brenner DE. Chromoendoscopy detects more adenomas than colonoscopy using intensive inspection without dye spraying. Cancer Prev Res (Phila Pa) 2009; 1:507-13. PubMed
  • Emmons K,Puleo E,McNeill LH,Bennett G,Chan S,Syngal S. Colorectal cancer screening awareness and intentions among low income, sociodemographically diverse adults under age 50. Cancer Causes Control 2008; 19:1031-41. PubMed
  • Byfield SA,Syngal S. Clinical guidelines versus universal molecular testing: are we ready to choose an optimal strategy for Lynch syndrome identification? Am J Gastroenterol 2008; 103:2837-40. PubMed
  • Stoffel EM,Turgeon DK,Stockwell DH,Zhao L,Normolle DP,Tuck MK,Bresalier RS,Marcon NE,Baron JA,Ruffin MT,Brenner DE,Syngal S. Missed adenomas during colonoscopic surveillance in individuals with Lynch Syndrome (hereditary nonpolyposis colorectal cancer). Cancer Prev Res (Phila Pa) 2009; 1:470-5. PubMed
  • Kastrinos F,Stoffel EM,Balmana J,Steyerberg EW,Mercado R,Syngal S. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev 2008; 17:2044-51. PubMed
  • Masciari S, Van den Abbeele AD, Diller LR, Rastarhuyeva I, Yap J, Schneider K, Digianni L, Li FP, Fraumeni JF Jr, Syngal S, Garber JE. F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. JAMA 2008; 299:1315-9. PubMed
  • 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; 6:333-8. PubMed
  • Balaguer F, Balmana J, Castellvi-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Syngal S, Castells A. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 2007; 134:39-46. PubMed
  • Liu W,Syngal S,Zellos L. Gastropericardial fistula-induced pericarditis: an unusual consequence of GERD. Medscape J Med 2008; 10:205. PubMed
  • 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; 26:5545-56. PubMed
  • Kastrinos F, Syngal S. Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol 2007; 34:418-24. PubMed
  • Kastrinos F, Stoffel EM, Balma. Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol 2007; 102:1284-90. PubMed
  • 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; 6:320-3. PubMed
  • Murff HJ, Greevy RA, Syngal S. The comprehensiveness of family cancer history assessments in primary care. Community Genet 2007; 10:174-80. PubMed
  • Balma. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006; 296:1469-78. PubMed
  • Ford BM, Evans JS, Stoffel EM, Balma. Factors associated with enrollment in cancer genetics research. Cancer Epidemiol Biomarkers Prev 2006; 15:1355-9. PubMed
  • 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; 15:704-10. PubMed
  • Wong P, Verselis SJ, Garber JE, Schneider K, DiGianni L, Stockwell DH, Li FP, Syngal S. Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology 2006; 130:73-9. PubMed
  • Stoffel EM, Syngal S. Colon cancer screening strategies. Curr Opin Gastroenterol 2006; 18:595-601. PubMed