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Sapna Syngal, MD, MPH


  • 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 Mar 10;32(8):833-40.
  • 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 Feb 25.
  • 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. 2013 Dec 19.
  • 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 Oct;145(4):775-81.e2.
  • Kastrinos F, Balmaña J, Syngal S.Prediction models in Lynch syndrome.Fam Cancer. 2013 Apr 4.
  • 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 Mar 25.
  • 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. 2012 Nov 28.
  • 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 Dec;127(3):544-51.
  • 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 Sep 17.
  • 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 Sep;131(9):1481-94.
  • 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.
  • 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 Apr;13(4):349-355.
  • 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 Apr;32(4):407-14.
  • 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 Jan;4(1):9-22.
  • 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 Jan;12(1):49-55.
  • 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.e5.
  • Grover S, Syngal S.Hereditary pancreatic cancer.Gastroenterology. 2010 Oct;139(4):1076-80, 1080.e1-2. Review.
  • 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 Aug;105(8):1851-60.
  • 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 May;138(5):1854-62.
  • Shelton RC,Puleo E,Syngal S,Emmons KM.Multivitamin use among multi-ethnic, low-income adults.Cancer Causes Control. 2009 Oct;20(8):1271-80.
  • Grover S, Syngal S.Risk assessment, genetic testing, and management of Lynch syndrome.J Natl Compr Canc Netw. 2010 Jan;8(1):98-105.
  • 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.
  • 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 Nov;137(5):1621-7.
  • 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 Sep 1;69(17):7053-61.
  • 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 Aug 20;27(24):3981-6.
  • 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 Jun;104(6):1508-18.
  • Grover S,Syngal S.Genetic testing in gastroenterology: Lynch syndrome.Best Pract Res Clin Gastroenterol. 2009;23(2):185-96. Review.
  • 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 Nov;1(6):470-5.
  • 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 Dec;1(7):507-13.
  • 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 Jan-Feb;28(1):169-77.
  • 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 Nov;103(11):2837-40.
  • Liu W,Syngal S,Zellos L.Gastropericardial fistula-induced pericarditis: an unusual consequence of GERD.Medscape J Med. 2008;10(9):205.
  • 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 Feb;33(2):309-12.
  • 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 Aug;17(8):2044-51.
  • 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 Dec;19(10):1031-41.
  • 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 Mar 19;299(11):1315-9.
  • 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.
  • 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 Jan;134(1):39-46.
  • 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.
  • Kastrinos F, Syngal S.Recently identified colon cancer predispositions: MYH and MSH6 mutations.Semin Oncol. 2007 Oct;34(5):418-24. Review.
  • 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, Stoffel EM, Balmaa J, Syngal S.Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis.Am J Gastroenterol. 2007 Jun;102(6):1284-90.
  • 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.
  • Stoffel EM, Syngal S.Colon cancer screening strategies.Curr Opin Gastroenterol. 2002 Sep;18(5):595-601.
  • Balmaa 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.
  • Ford BM, Evans JS, Stoffel EM, Balmaa J, Regan MM, Syngal S.Factors associated with enrollment in cancer genetics research.Cancer Epidemiol Biomarkers Prev. 2006 Jul;15(7):1355-9.
  • 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.
  • 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 Jan;130(1):73-9.
  • Syngal S, Stoffel E, Chung D, Willett 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.
  • 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.
  • Strate LL, Syngal S.Hereditary colorectal cancer syndromes.Cancer Causes Control. 2005 Apr;16(3):201-13.
  • Stoffel EM, Syngal S.Adenomas in young patients: what is the optimal evaluation?.Am J Gastroenterol. 2005 May;100(5):1150-3.
  • Lu KH, Dinh M, Kohlmann W, Watson P, Green J, Syngal S, Bandipalliam P, Chen LM, Allen B, Conrad P, Terdiman J, Sun C, Daniels M, Burke T, Gershenson DM, Lynch H, Lynch P, Broaddus RR.Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome.Obstet Gynecol. 2005 Mar;105(3):569-74.
  • Agrawal J, Syngal S.Colon cancer screening strategies.Curr Opin Gastroenterol. 2005 Jan;21(1):59-63.
  • Strate LL, Syngal S.Predictors of utilization of early colonoscopy vs. radiography for severe lower intestinal bleeding.Gastrointest Endosc. 2005 Jan;61(1):46-52.
  • Syngal S, Bandipalliam P, Boland CR.Surveillance of patients at high risk for colorectal cancer.Med Clin North Am. 2005 Jan;89(1):61-84, vii-viii.
  • Whitney D, Skoletsky J, Moore K, Boynton K, Kann L, Brand R, Syngal S, Lawson M, Shuber A.Enhanced retrieval of DNA from human fecal samples results in improved performance of colorectal cancer screening test.J Mol Diagn. 2004 Nov;6(4):386-95.
  • Murff HJ, Byrne D, Syngal S.Cancer risk assessment: quality and impact of the family history interview.Am J Prev Med. 2004 Oct;27(3):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 Sep 22;292(12):1480-9.
  • Grover S, Stoffel EM, 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 Sep;2(9):813-9.
  • Bandipalliam P, Balmana J, Syngal S.Comprehensive genetic and endoscopic evaluation may be necessary to distinguish sporadic versus familial adenomatous polyposis-associated abdominal desmoid tumors.Surgery. 2004 Jun;135(6):683-9.
  • Balmaa J, Stoffel EM, Emmons KM, Garber JE, Syngal S.Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes.J Med Genet. 2004 Apr;41(4):e44.
  • Bandipalliam P, Garber J, Kolodner RD, Syngal S.Clinical presentation correlates with the type of mismatch repair gene involved in hereditary nonpolyposis colon cancer.Gastroenterology. 2004 Mar;126(3):936-7.
  • Telford JJ, Saltzman JR, Kuntz KM, 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 Feb 4;96(3):191-201.
  • Garber JE, Syngal S.One less thing to worry about: the shrinking spectrum of tumors in BRCA founder mutation carriers.J Natl Cancer Inst. 2004 Jan 7;96(1):2-3.
  • Stockwell DH, Woo P, Jacobson BC, Remily R, Syngal S, Wolf J, Farraye FA.Determinants of colorectal cancer screening in women undergoing mammography.Am J Gastroenterol. 2003 Aug;98(8):1875-80.
  • Stoffel EM, Garber JE, Grover S, Russo L, Johnson J, Syngal S.Cancer surveillance is often inadequate in people at high risk for colorectal cancer.J Med Genet. 2003 May;40(5):e54.
  • Strate LL, Orav EJ, Syngal S.Early predictors of severity in acute lower intestinal tract bleeding.Arch Intern Med. 2003 Apr 14;163(7):838-43.
  • Strate LL, Syngal S.Timing of colonoscopy: impact on length of hospital stay in patients with acute lower intestinal bleeding.Am J Gastroenterol. 2003 Feb;98(2):317-22.
  • Gazzoli I, Loda M, Garber J, Syngal S, Kolodner RD.A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor.Cancer Res. 2002 Jul 15;62(14):3925-8.
  • Wahlberg SS, Schmeits J, Thomas G, Loda M, Garber J, Syngal S, Kolodner RD, Fox E.Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families.Cancer Res. 2002 Jun 15;62(12):3485-92.
  • Syngal S, Fox EA, Eng C, Kolodner RD, Garber JE.Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1.J Med Genet. 2000 Sep;37(9):641-5.
  • Syngal S, Schrag D, Falchuk M, Tung N, Farraye FA, Chung D, Wright M, Whetsell A, Miller G, Garber JE.Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps.JAMA. 2000 Aug 16;284(7):857-60.
  • Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, Wahlberg S, Fox EA, Peel D, Ziogas A, Garber JE, Syngal S, Anton-Culver H, Li FP.Germ-line msh6 mutations in colorectal cancer families.Cancer Res. 1999 Oct 15;59(20):5068-74.
  • 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.
  • Syngal S, Weeks JC, Schrag D, Garber JE, Kuntz KM.Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations.Ann Intern Med. 1998 Nov 15;129(10):787-96.