DF/HCC Program Affiliation

Member, Cancer Genetics Program
Member, Cancer Risk Reduction Program
Member, Outcomes Research Program
Member, Gastrointestinal Malignancies Program

Research Abstract

Dr. Syngal's research is devoted to the study of genetics, screening and primary prevention of gastrointestinal tumors. The major focus is on hereditary colorectal cancer syndromes, notably hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP), and pancreatic cancer. She runs several large family registries of patients and families at high risk of cancer, where detailed medical histories and DNA samples are collected for research purposes. These registries form the nidus of several projects aimed at gene-finding, evaluation of genotype-phenotype relationships in mutation carriers, as well as the clinical impact of genetic testing on patients and their families. Dr. Syngal also directs several studies aimed at early cancer detection (particularly at discovery and validation of serum biomarkers for colorectal and esophageal cancer) and is a funded investigator of the NCI-supported Early Detection Research Network. Finally, her group is involved in several studies evaluating novel approaches to cancer screening, including fecal DNA tests, chromoendoscopy, and imaging.

Publications

• Kastrinos F, Stoffel EM, Balmaña J, Syngal S. Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol 2007 Jun; 102(6):1284-90
  PMID: 17355417
• 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 Sep 27; 296(12):1469-78
  PMID: 17003395
• 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
  PMID: 15383520
• 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
  PMID: 15354282
• 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
  PMID: 15179376
• 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
  PMID: 14988860
• 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
  PMID: 10938175
• 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
  PMID: 10422993
• 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
  PMID: 9841584