Photo of Sapna Syngal,  MD, MPH

Sapna Syngal, MD, MPH

Dana-Farber Cancer Institute

Dana-Farber Cancer Institute
Phone: (617) 632-6164
Fax: (617) 632-4088


sapna_syngal@dfci.harvard.edu

Sapna Syngal, MD, MPH

Dana-Farber Cancer Institute

EDUCATIONAL TITLES

  • 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

DF/HCC PROGRAM AFFILIATION

DF/HCC ASSOCIATIONS

  • Member, Center Scientific Council

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.

Publications from Harvard Catalyst Profiles

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  • Rodriguez NJ, Furniss CS, Yurgelun MB, Ukaegbu C, Constantinou PE, Fortes I, Caruso A, Schwartz AN, Stopfer JE, Underhill-Blazey M, Kenner B, Nelson SH, Okumura S, Zhou AY, Coffin TB, Uno H, Horiguchi M, Ocean AJ, McAllister F, Lowy AM, Klein AP, Madlensky L, Petersen GM, Garber JE, Lippman SM, Goggins MG, Maitra A, Syngal S. A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study. Gastroenterology 2024. PubMed
  • Sandoval RL, Horiguchi M, Ukaegbu C, Furniss CS, Uno H, Syngal S, Yurgelun MB. PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer. Fam Cancer 2023. PubMed
  • Spaander MCW, Zauber AG, Syngal S, Blaser MJ, Sung JJ, You YN, Kuipers EJ. Young-onset colorectal cancer. Nat Rev Dis Primers 2023; 9:21. PubMed
  • Zhong CS, Horiguchi M, Uno H, Ukaegbu C, Chittenden A, LeBoeuf NR, Syngal S, Nambudiri VE, Yurgelun MB. Clinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort. J Am Acad Dermatol 2023. PubMed
  • Rodriguez NJ, Ricker C, Stoffel EM, Syngal S. Barriers and Facilitators to Genetic Education, Risk Assessment, and Testing: Considerations on Advancing Equitable Genetics Care. Gastroenterology 2023; 164:5-8. PubMed
  • Shyr C, Blackford AL, Huang T, Ke J, Ouardaoui N, Trippa L, Syngal S, Ukaegbu C, Uno H, Nafa K, Stadler ZK, Offit K, Amos CI, Lynch PM, Chen S, Giardiello FM, Buchanan DD, Hopper JL, Jenkins MA, Southey MC, Win AK, Figueiredo JC, Braun D, Parmigiani G. A validation of models for prediction of pathogenic variants in mismatch repair genes. Genet Med 2022; 24:2155-2166. PubMed
  • Yurgelun MB, Uno H, Furniss CS, Ukaegbu C, Horiguchi M, Yussuf A, LaDuca H, Chittenden A, Garber JE, Syngal S. Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment. J Clin Oncol 2022. PubMed
  • Dbouk M, Katona BW, Brand RE, Chak A, Syngal S, Farrell JJ, Kastrinos F, Stoffel EM, Blackford AL, Rustgi AK, Dudley B, Lee LS, Chhoda A, Kwon R, Ginsberg GG, Klein AP, Kamel I, Hruban RH, He J, Shin EJ, Lennon AM, Canto MI, Goggins M. The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival. J Clin Oncol 2022. PubMed
  • Mittendorf KF, Lewis HS, Duenas DM, Eubanks DJ, Gilmore MJ, Goddard KAB, Joseph G, Kauffman TL, Kraft SA, Lindberg NM, Reyes AA, Shuster E, Syngal S, Ukaegbu C, Zepp JM, Wilfond BS, Porter KM. Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews. Hered Cancer Clin Pract 2022; 20:22. PubMed
  • Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 2022. PubMed
  • Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2022. PubMed
  • Amendola LM, Shuster E, Leo MC, Dorschner MO, Rolf BA, Shirts BH, Gilmore MJ, Okuyama S, Zepp JM, Kauffman TL, Mittendorf KF, Bellcross C, Jenkins CL, Joseph G, Riddle L, Syngal S, Ukaegbu C, Goddard KAB, Wilfond BS, Jarvik GP, . Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access. Genet Med 2022. PubMed
  • Giner-Calabuig M, De Leon S, Wang J, Fehlmann TD, Ukaegbu C, Gibson J, Alustiza-Fernandez M, Pico MD, Alenda C, Herraiz M, Carrillo-Palau M, Salces I, Reyes J, Ortega SP, Obrador-Hevia A, Cecchini M, Syngal S, Stoffel E, Ellis NA, Sweasy J, Jover R, Llor X, Xicola RM. Mutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential. Br J Cancer 2022. PubMed
  • Hsu FC, Roberts NJ, Childs E, Porter N, Rabe KG, Borgida A, Ukaegbu C, Goggins MG, Hruban RH, Zogopoulos G, Syngal S, Gallinger S, Petersen GM, Klein AP. Risk of Pancreatic Cancer Among Individuals With Pathogenic Variants in the ATM Gene. JAMA Oncol 2021; 7:1664-1668. PubMed
  • Blackford AL, Childs EJ, Porter N, Petersen GM, Rabe KG, Gallinger S, Borgida A, Syngal S, Cote ML, Schwartz AG, Goggins MG, Hruban RH, Parmigiani G, Klein AP. A risk prediction tool for individuals with a family history of breast, ovarian, or pancreatic cancer: BRCAPANCPRO. Br J Cancer 2021. PubMed
  • Overbeek KA, Goggins MG, Dbouk M, Levink IJM, Koopmann BDM, Chuidian M, Konings ICAW, Paiella S, Earl J, Fockens P, Gress TM, Ausems MGEM, Poley JW, Thosani NC, Half E, Lachter J, Stoffel EM, Kwon RS, Stoita A, Kastrinos F, Lucas AL, Syngal S, Brand RE, Chak A, Carrato A, Vleggaar FP, Bartsch DK, van Hooft JE, Cahen DL, Canto MI, Bruno MJ, . Timeline of development of pancreatic cancer and implications for successful early detection in high-risk individuals. Gastroenterology 2021. PubMed
  • Katona BW, Mahmud N, Dbouk M, Ahmad N, Chhoda A, Dudley B, Hayat U, Kwon RS, Lee LS, Rustgi AK, Ukaegbu C, Vasquez L, Volk S, Brand RE, Canto MI, Chak A, Farrell JJ, Kastrinos F, Stoffel EM, Syngal S, Goggins M. COVID-19 related pancreatic cancer surveillance disruptions amongst high-risk individuals. Pancreatology 2021. PubMed
  • Houwen BBSL, Mostafavi N, Vleugels JLA, Hüneburg R, Lamberti C, Rivero-Sánchez L, Pellisé M, Stoffel EM, Syngal S, Haanstra JF, Koornstra JJ, Dekker E, Hazewinkel Y. Dye-Based Chromoendoscopy in Patients With Lynch Syndrome: An Individual Patient Data Meta-Analysis of Randomized Trials. Am J Gastroenterol 2021; 116:825-828. PubMed
  • Biller LH, Horiguchi M, Uno H, Ukaegbu C, Syngal S, Yurgelun MB. Familial Burden and Other Clinical Factors Associated With Various Types of Cancer in Individuals With Lynch Syndrome. Gastroenterology 2021. PubMed
  • Mittendorf KF, Ukaegbu C, Gilmore MJ, Lindberg NM, Kauffman TL, Eubanks DJ, Shuster E, Allen J, McMullen C, Feigelson HS, Anderson KP, Leo MC, Hunter JE, Sasaki SO, Zepp JM, Syngal S, Wilfond BS, Goddard KAB. Adaptation and early implementation of the PREdiction model for gene mutations (PREMM™) for lynch syndrome risk assessment in a diverse population. Fam Cancer 2021. PubMed
  • Houwen BBSL, Mostafavi N, Vleugels JLA, Hüneburg R, Lamberti C, Rivero-Sánchez L, Pellisé M, Stoffel EM, Syngal S, Haanstra JF, Koornstra JJ, Dekker E, Hazewinkel Y. Dye-Based Chromoendoscopy in Patients With Lynch Syndrome: An Individual Patient Data Meta-Analysis of Randomized Trials. Am J Gastroenterol 2021. PubMed
  • Chittenden A, Haraldsdottir S, Ukaegbu C, Underhill-Blazey M, Gaonkar S, Uno H, Brais LK, Perez K, Wolpin BM, Syngal S, Yurgelun MB. Implementing Systematic Genetic Counseling and Multigene Germline Testing for Individuals With Pancreatic Cancer. JCO Oncol Pract 2021; 17:e236-e247. PubMed
  • Mittendorf KF, Knerr S, Kauffman TL, Lindberg NM, Anderson KP, Feigelson HS, Gilmore MJ, Hunter JE, Joseph G, Kraft SA, Zepp JM, Syngal S, Wilfond BS, Goddard KAB. Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities. JCO Precis Oncol 2021. PubMed
  • Furniss CS, Yurgelun MB, Ukaegbu C, Constantinou PE, Lafferty CC, Talcove-Berko ER, Schwartz AN, Stopfer JE, Underhill-Blazey M, Kenner B, Nelson SH, Okumura S, Law S, Zhou AY, Coffin TB, Rodriguez NJ, Uno H, Ocean AJ, McAllister F, Lowy AM, Lippman SM, Klein AP, Madlensky L, Petersen GM, Garber JE, Goggins MG, Maitra A, Syngal S. Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study. Cancer Prev Res (Phila Pa) 2021; 14:1021-1032. PubMed
  • Perez K, Kulke MH, Chittenden A, Ukaegbu C, Astone K, Alexander H, Brais L, Zhang J, Garcia J, Esplin ED, Yang S, Da Silva A, Nowak JA, Yurgelun MB, Garber J, Syngal S, Chan J. Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs). JCO Precis Oncol 2021; 5:808-816. PubMed
  • Bancroft EK, Page EC, Brook MN, Thomas S, Taylor N, Pope J, McHugh J, Jones AB, Karlsson Q, Merson S, Ong KR, Hoffman J, Huber C, Maehle L, Grindedal EM, Stormorken A, Evans DG, Rothwell J, Lalloo F, Brady AF, Bartlett M, Snape K, Hanson H, James P, McKinley J, Mascarenhas L, Syngal S, Ukaegbu C, Side L, Thomas T, Barwell J, Teixeira MR, Izatt L, Suri M, Macrae FA, Poplawski N, Chen-Shtoyerman R, Ahmed M, Musgrave H, Nicolai N, Greenhalgh L, Brewer C, Pachter N, Spigelman AD, Azzabi A, Helfand BT, Halliday D, Buys S, Ramon Y Cajal T, Donaldson A, Cooney KA, Harris M, McGrath J, Davidson R, Taylor A, Cooke P, Myhill K, Hogben M, Aaronson NK, Ardern-Jones A, Bangma CH, Castro E, Dearnaley D, Dias A, Dudderidge T, Eccles DM, Green K, Eyfjord J, Falconer A, Foster CS, Gronberg H, Hamdy FC, Johannsson O, Khoo V, Lilja H, Lindeman GJ, Lubinski J, Axcrona K, Mikropoulos C, Mitra AV, Moynihan C, Ni Raghallaigh H, Rennert G, Collier R, , Offman J, Kote-Jarai Z, Eeles RA. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. Lancet Oncol. 2021; 22:1618-1631. PubMed
  • Shaukat A, Kaltenbach T, Dominitz JA, Robertson DJ, Anderson JC, Cruise M, Burke CA, Gupta S, Lieberman D, Syngal S, Rex DK. Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology 2020; 159:1916-1934.e2. PubMed
  • MacFarland SP, Ebrahimzadeh JE, Zelley K, Begum L, Bass LM, Brand RE, Dudley B, Fishman DS, Ganzak A, Karloski E, Latham A, Llor X, Plon S, Riordan MK, Scollon SR, Stadler ZK, Syngal S, Ukaegbu C, Weiss JM, Yurgelun MB, Brodeur GM, Mamula P, Katona BW. Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing / Variant. Cancer Prev Res (Phila Pa) 2020. PubMed
  • Mannucci A, Furniss CS, Ukaegbu C, Horiguchi M, Fehlmann T, Uno H, Yurgelun MB, Syngal S. Comparison of Colorectal and Endometrial Microsatellite Instability Tumor Analysis and Premm Risk Assessment for Predicting Pathogenic Germline Variants on Multigene Panel Testing. J Clin Oncol 2020. PubMed
  • Ukaegbu C, Levi Z, Fehlmann TD, Uno H, Chittenden A, Inra JA, Grover S, Kastrinos F, Syngal S, Yurgelun MB. Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals. Fam Cancer 2020. PubMed
  • Gupta S, Lieberman D, Anderson JC, Burke CA, Dominitz JA, Kaltenbach T, Robertson DJ, Shaukat A, Syngal S, Rex DK. Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2020; 91:463-485.e5. PubMed
  • Kaltenbach T, Anderson JC, Burke CA, Dominitz JA, Gupta S, Lieberman D, Robertson DJ, Shaukat A, Syngal S, Rex DK. Endoscopic Removal of Colorectal Lesions-Recommendations by the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2020; 91:486-519. PubMed
  • Kaltenbach T, Anderson JC, Burke CA, Dominitz JA, Gupta S, Lieberman D, Robertson DJ, Shaukat A, Syngal S, Rex DK. Spotlight: US Multi-Society Task Force on Colorectal Cancer Recommendations for Endoscopic Removal of Colorectal Lesions. Gastroenterology 2020; 158:1130. PubMed
  • Gupta S, Lieberman D, Anderson JC, Burke CA, Dominitz JA, Kaltenbach T, Robertson DJ, Shaukat A, Syngal S, Rex DK. Spotlight: US Multi-Society Task Force on Colorectal Cancer Recommendations for Follow-up After Colonoscopy and Polypectomy. Gastroenterology 2020; 158:1154. PubMed
  • Kaltenbach T, Anderson JC, Burke CA, Dominitz JA, Gupta S, Lieberman D, Robertson DJ, Shaukat A, Syngal S, Rex DK. Endoscopic Removal of Colorectal Lesions: Recommendations by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 2020; 115:435-464. PubMed
  • Kaltenbach T, Anderson JC, Burke CA, Dominitz JA, Gupta S, Lieberman D, Robertson DJ, Shaukat A, Syngal S, Rex DK. Endoscopic Removal of Colorectal Lesions-Recommendations by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology 2020; 158:1095-1129. PubMed
  • Gupta S, Lieberman D, Anderson JC, Burke CA, Dominitz JA, Kaltenbach T, Robertson DJ, Shaukat A, Syngal S, Rex DK. Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology 2020; 158:1131-1153.e5. PubMed
  • Gupta S, Lieberman D, Anderson JC, Burke CA, Dominitz JA, Kaltenbach T, Robertson DJ, Shaukat A, Syngal S, Rex DK. Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 2020; 115:415-434. PubMed
  • Burke CA, Dekker E, Lynch P, Samadder NJ, Balaguer F, Hüneburg R, Burn J, Castells A, Gallinger S, Lim R, Stoffel EM, Gupta S, Henderson A, Kallenberg FG, Kanth P, Roos VH, Ginsberg GG, Sinicrope FA, Strassburg CP, Van Cutsem E, Church J, Lalloo F, Willingham FF, Wise PE, Grady WM, Ford M, Weiss JM, Gryfe R, Rustgi AK, Syngal S, Cohen A. Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis. N Engl J Med 2020; 383:1028-1039. PubMed
  • Shaukat A, Kaltenbach T, Dominitz JA, Robertson DJ, Anderson JC, Cruise M, Burke CA, Gupta S, Lieberman D, Syngal S, Rex DK. Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2020; 92:997-1015.e1. PubMed
  • Shaukat A, Kaltenbach T, Dominitz JA, Robertson DJ, Anderson JC, Cruise M, Burke CA, Gupta S, Lieberman D, Syngal S, Rex DK. Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 2020; 115:1751-1767. PubMed
  • Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M, . Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut 2020; 69:7-17. PubMed
  • Wong C, Chen F, Alirezaie N, Wang Y, Cuggia A, Borgida A, Holter S, Lenko T, Domecq C, , Petersen GM, Syngal S, Brand R, Rustgi AK, Cote ML, Stoffel E, Olson SH, Roberts NJ, Akbari MR, Majewski J, Klein AP, Greenwood CMT, Gallinger S, Zogopoulos G. A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene. PLoS Genet. 2019; 15:e1008344. PubMed
  • Clarke EV, Muessig KR, Zepp J, Hunter JE, Syngal S, Acheson LS, Wiesner GL, Peterson SK, Bergen KM, Shuster E, Davis JV, Schneider JL, Kauffman TL, Gilmore MJ, Reiss JA, Rope AF, Cook JE, Goddard KAB. Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting. Fam Cancer 2019. PubMed
  • Mittendorf KF, Hunter JE, Schneider JL, Shuster E, Rope AF, Zepp J, Gilmore MJ, Muessig KR, Davis JV, Kauffman TL, Bergen KM, Wiesner GL, Acheson LS, Peterson SK, Syngal S, Reiss JA, Goddard KAB. Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study. Hered Cancer Clin Pract 2019; 17:31. PubMed
  • Tamura K, Yu J, Hata T, Suenaga M, Shindo K, Abe T, MacGregor-Das A, Borges M, Wolfgang CL, Weiss MJ, He J, Canto MI, Petersen GM, Gallinger S, Syngal S, Brand RE, Rustgi A, Olson SH, Stoffel E, Cote ML, Zogopoulos G, Potash JB, Goes FS, McCombie RW, Zandi PP, Pirooznia M, Kramer M, Parla J, Eshleman JR, Roberts NJ, Hruban RH, Klein AP, Goggins M. Mutations in the pancreatic secretory enzymes and are associated with pancreatic cancer. Proc Natl Acad Sci U S A 2018; 115:4767-4772. PubMed
  • Underhill M, Hong F, Lawrence J, Blonquist T, Syngal S. Relationship between individual and family characteristics and psychosocial factors in persons with familial pancreatic cancer. 2018. PubMed
  • Syngal S, Furniss CS. Germline Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis. JAMA 2018; 319:2383-2385. PubMed
  • Schneider JL, Goddard KAB, Muessig KR, Davis JV, Rope AF, Hunter JE, Peterson SK, Acheson LS, Syngal S, Wiesner GL, Reiss JA. Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews. Hered Cancer Clin Pract 2018; 16:11. PubMed
  • Rana HQ, Syngal S. Biallelic Mismatch Repair Deficiency Syndrome: Management and Prevention of a Devastating Manifestation of the Lynch Syndrome. Gastroenterology 2017. PubMed
  • Hunter JE, Arnold KA, Cook JE, Zepp J, Gilmore MJ, Rope AF, Davis JV, Bergen KM, Esterberg E, Muessig KR, Peterson SK, Syngal S, Acheson L, Wiesner G, Reiss J, Goddard KA. Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives. Fam Cancer 2017. PubMed
  • Inra JA, Nayor J, Rosenblatt M, Mutinga M, Reddy SI, Syngal S, Kastrinos F. Comparison of Colonoscopy Quality Measures Across Various Practice Settings and the Impact of Performance Scorecards. Dig Dis Sci 2016. PubMed
  • Childs EJ, Chaffee KG, Gallinger S, Syngal S, Schwartz AG, Cote ML, Bondy ML, Hruban RH, Chanock SJ, Hoover RN, Fuchs CS, Rider DN, Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM, Risch HA, Goggins MG, Petersen GM, Klein AP. Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer Epidemiol Biomarkers Prev 2016; 25:1185-91. PubMed
  • Lowery JT, Ahnen DJ, Schroy PC, Hampel H, Baxter N, Boland CR, Burt RW, Butterly L, Doerr M, Doroshenk M, Feero WG, Henrikson N, Ladabaum U, Lieberman D, McFarland EG, Peterson SK, Raymond M, Samadder NJ, Syngal S, Weber TK, Zauber AG, Smith R. Understanding the contribution of family history to colorectal cancer risk and its clinical implications: A state-of-the-science review. Cancer 2016. PubMed
  • Xicola RM, Bontu S, Doyle BJ, Rawson J, Garre P, Lee E, de la Hoya M, Bessa X, Clofent J, Bujanda L, Balaguer F, Castellví-Bel S, Alenda C, Jover R, Ruiz-Ponte C, Syngal S, Andreu M, Carracedo A, Castells A, Newcomb PA, Lindor N, Potter JD, Baron JA, Ellis NA, Caldes T, LLor X. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC). Carcinogenesis 2016. PubMed
  • Grover S, Lim RM, Blumberg RS, Syngal S. Oncogastroenterology. J Clin Oncol 2016; 34:1154-5. PubMed
  • Parikh AR, Keating NL, Liu PH, Gray SW, Klabunde CN, Kahn KL, Haggstrom DA, Syngal S, Kim B, Parikh AR, Keating NL, Liu PH, Gray SW, Klabunde CN, Kahn KL, Haggstrom DA, Syngal S, Kim B. ReCAP: Oncologists' Selection of Genetic and Molecular Testing in the Evolving Landscape of Stage II Colorectal Cancer. J Oncol Pract 2016; 12:259-60. PubMed
  • Kastrinos F, Ojha RP, Leenen C, Alvero C, Mercado RC, Balmaña J, Valenzuela I, Balaguer F, Green R, Lindor NM, Thibodeau SN, Newcomb P, Win AK, Jenkins M, Buchanan DD, Bertario L, Sala P, Hampel H, Syngal S, Steyerberg EW, . Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer. Journal of the National Cancer Institute 2016. PubMed
  • Lynch PM, Morris JS, Wen S, Advani SM, Ross W, Chang GJ, Rodriguez-Bigas M, Raju GS, Ricciardiello L, Iwama T, Rossi BM, Pellise M, Stoffel E, Wise PE, Bertario L, Saunders B, Burt R, Belluzzi A, Ahnen D, Matsubara N, Bülow S, Jespersen N, Clark SK, Erdman SH, Markowitz AJ, Bernstein I, De Haas N, Syngal S, Moeslein G. A proposed staging system and stage-specific interventions for familial adenomatous polyposis. Gastrointest Endosc 2016. PubMed
  • Roberts NJ, Norris AL, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stoffel EM, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee KG, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie RW, McMahon KW, Niknafs N, Parla J, Pirooznia M, Potash JB, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins M, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP. Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer. 2015. PubMed
  • Robson ME, Bradbury AR, Arun B, Domchek SM, Ford JM, Hampel HL, Lipkin SM, Syngal S, Wollins DS, Lindor NM. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin 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
  • 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
  • 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
  • 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 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; 1:214-21. 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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. Dis Colon Rectum 2014; 57:1025-48. 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
  • 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
  • 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
  • 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
  • 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 2013. PubMed
  • Kastrinos F, Balmaña J, Syngal S. Prediction models in Lynch syndrome. Fam Cancer 2013. 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
  • 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
  • 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; 13:349-55. 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
  • 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; 140:73-81.e5. 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 2009; 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 2009; 33:309-12. PubMed
  • Grover S,Syngal S. Genetic testing in gastroenterology: Lynch syndrome. Best Pract Res Clin Gastroenterol 2009; 23:185-96. 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
  • 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
  • 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) 2008; 1:507-13. 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) 2008; 1:470-5. 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
  • 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
  • Liu W,Syngal S,Zellos L. Gastropericardial fistula-induced pericarditis: an unusual consequence of GERD. Medscape J Med 2008; 10:205. 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 2008; 134:39-46. 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, Balmaña J, Syngal S. 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
  • 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; 296:1469-78. PubMed
  • Ford BM, Evans JS, Stoffel EM, Balmaña J, Regan MM, Syngal S. 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 2002; 18:595-601. PubMed
  • Goggins MG, Lippman SM, Constantinou PE, Jacks T, Petersen GM, Syngal S, Maitra A. Intercepting Pancreatic Cancer: Our Dream Team's Resolve to Stop Pancreatic Cancer. Pancreas ; 47:1175-1176. PubMed
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