Sapna Syngal, MD, MPH

Sapna Syngal, MD, MPH

Gastroenterology

Contact Information

Office Phone Number

617-632-6164

Fax

617-582-8807

Appointments

617-632-2178 (new patients)
617-582-7777 (established patients)
617-582-9113 (Lynch Syndrome Center)

Biography

Sapna Syngal, MD, MPH

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.

Researcher

Physician

Director of Research, Division of Cancer Genetics and Prevention
Co-Director, Centers for Early Detection and Intervention
Director of Strategic Planning for Prevention and Early Cancer Detection
Institute Physician
Professor of Medicine, Harvard Medical School
Founder, Lynch Syndrome Center

Clinical Interests

Cancer genetic screening and prevention, Early detection of cancer, Familial cancer syndromes, Gastrointestinal cancers, Lynch syndrome

Board Certification

  • Gastroenterology, 1997
  • Internal Medicine, 1993

Fellowship

  • Brigham and Women's Hospital, Gastroenterology

Residency

  • Brigham and Women's Hospital, Internal Medicine

Medical School

  • McGill University Faculty of Medicine

Recent Awards

  • Elected as a member to The American Society for Clinical Investigation

    2009

  • Partners in Excellence Team Award from Brigham and Women's Hospital

    2011

  • Lifetime Achievement Award from The Collaborative Group of the Americas

    2012

Research

    Genetics, Early Detection, and Prevention of Hereditary Cancers

    The major focus of my career has been the development of research, clinical and training programs focusing on the genetics, screening, and prevention of malignancies. Directing a research laboratory, administrative and scientific leadership activities, mentoring junior investigators and teaching comprise my effort.

    My research interests began in the field of inherited gastrointestinal cancers, where I have focused on genetics, early detection and prevention, and in recent years have expanded to included prevention of all forms of inherited cancer. With the discovery of the mismatch repair genes, MSH2 and MLH1, we were one of the first groups to evaluate the prevalence of mutations in large clinical populations, demonstrating phenotypic differences between carriers of the two genes. We 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. Based on our research on the mismatch repair genes, we developed the PREMM models, risk assessment tools that predict the likelihood of carrying cancer causing mutations. These models have been incorporated into multiple national guidelines for the management of hereditary GI cancers. Recent work has expanded to multigene panel testing and has included the development of a PREMM model for assessment of risk for any hereditary cancer. A related focus of my work has been to increase access to genetic testing, with a particular focus on increasing testing among disadvantaged populations. The Cancer Health Assessment Reaching Many (CHARM) Study, a collaboration with Kaiser Permanente, is working to expand the reach of genomic services in diverse communities. Finally, I am working on novel methodologies to implement genetic testing and education in clinical practice. 

    In addition to my program’s primary research, I have been the site-PI for multiple national consortiums. We are a site for the National Cancer Institute Pancreatic Cancer Genetic Epidemiologic (PACGENE) consortium, where our 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), we have been evaluating novel biomarkers for early colon cancer and other gastrointestinal tumor detection for over twenty years. I recently assumed the role of Co-Principal Investigator for this consortium. I am the site-PI for Cancer of the Pancreas Screening (CAPS) consortium, that has evaluated novel imaging and endoscopic approaches to screen for early pancreatic neoplasia in high-risk families and made seminal contributions to the field for over fifteen years.

    As an extension of my own research, I am leading the Cancer Risk, Prevention, and Early Detection Program at Dana-Farber/ Harvard Cancer Center (DF/HCC), which was established in 1998 as a consortium of all major cancer research units at Harvard (Boston Children’s Hospital, Beth Israel Deaconess Medical Center, Brigham and Women’s Hospital, Dana-Farber Cancer Institute, Harvard Medical School, Harvard School of Public Health, and Massachusetts General Hospital). In this role, I am helping drive multi-disciplinary collaboration between different institutions and scientists at our cancer center and working to frame the scientific direction in the area of early cancer detection and prevention among diverse populations. I am the Director of Strategic Planning for Prevention and Early Cancer Detection at Dana-Farber Cancer Institute and Co-Director of the Centers for Early Detection and Interception, a novel clinical and research endeavor with a goal of changing cancer care delivery models to include intense focus on interventions aimed at intercepting cancer development and detecting cancer at its earliest stages.

    Publications

      • PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer. Fam Cancer. 2023 10; 22(4):459-465. View in: Pubmed

      • Young-onset colorectal cancer. Nat Rev Dis Primers. 2023 04 27; 9(1):21. View in: Pubmed

      • Clinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort. J Am Acad Dermatol. 2023 06; 88(6):1282-1290. View in: Pubmed

      • MyLynch: A Patient-Facing Clinical Decision Support Tool for Genetically-Guided Personalized Medicine in Lynch Syndrome. Cancers (Basel). 2023 Jan 06; 15(2). View in: Pubmed

      • Barriers and Facilitators to Genetic Education, Risk Assessment, and Testing: Considerations on Advancing Equitable Genetics Care. Gastroenterology. 2023 01; 164(1):5-8. View in: Pubmed

      • Barriers and Facilitators to Genetic Education, Risk Assessment, and Testing: Considerations on Advancing Equitable Genetics Care. Clin Gastroenterol Hepatol. 2023 01; 21(1):3-7. View in: Pubmed

      • Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines. Clin Gastroenterol Hepatol. 2023 03; 21(3):581-603.e33. View in: Pubmed

      • Reply to S. Raoof. J Clin Oncol. 2023 02 10; 41(5):1147-1149. View in: Pubmed

      • A validation of models for prediction of pathogenic variants in mismatch repair genes. Genet Med. 2022 10; 24(10):2155-2166. View in: Pubmed

      • Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment. J Clin Oncol. 2022 12 10; 40(35):4083-4094. View in: Pubmed

      • The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival. J Clin Oncol. 2022 10 01; 40(28):3257-3266. View in: Pubmed

      • Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews. Hered Cancer Clin Pract. 2022 Jun 10; 20(1):22. View in: Pubmed

      • 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 06 01; 117(6):846-864. View in: Pubmed

      • 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 06; 95(6):1025-1047. View in: Pubmed

      • Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 06; 162(7):2063-2085. View in: Pubmed

      • 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 06; 24(6):1196-1205. View in: Pubmed

      • Mutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential. Br J Cancer. 2022 06; 126(11):1595-1603. View in: Pubmed

      • Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities. JCO Precis Oncol. 2021; 5. View in: Pubmed

      • Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs). JCO Precis Oncol. 2021 11; 5:808-816. View in: Pubmed

      • Risk of Pancreatic Cancer Among Individuals With Pathogenic Variants in the ATM Gene. JAMA Oncol. 2021 Nov 01; 7(11):1664-1668. View in: Pubmed

      • A risk prediction tool for individuals with a family history of breast, ovarian, or pancreatic cancer: BRCAPANCPRO. Br J Cancer. 2021 12; 125(12):1712-1717. View in: Pubmed

      • Timeline of Development of Pancreatic Cancer and Implications for Successful Early Detection in High-Risk Individuals. Gastroenterology. 2022 03; 162(3):772-785.e4. View in: Pubmed

      • 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 11; 22(11):1618-1631. View in: Pubmed

      • Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study. Cancer Prev Res (Phila). 2021 11; 14(11):1021-1032. View in: Pubmed

      • Screening for Pancreatic Ductal Adenocarcinoma: Are We Asking the Impossible?-Letter. Cancer Prev Res (Phila). 2021 10; 14(10):973-974. View in: Pubmed

      • Low Prevalence of Screen-Detected Colorectal Cancer in an Average-Risk Population: The New Normal. Clin Gastroenterol Hepatol. 2022 Nov; 20(11):2650-2652.e1. View in: Pubmed

      • COVID-19 related pancreatic cancer surveillance disruptions amongst high-risk individuals. Pancreatology. 2021 Apr 20. View in: Pubmed

      • Dye-Based Chromoendoscopy in Patients With Lynch Syndrome: An Individual Patient Data Meta-Analysis of Randomized Trials. Am J Gastroenterol. 2021 04; 116(4):825-828. View in: Pubmed

      • Correction to: Letter to the Editor-Recent advances in Lynch syndrome: response to Møller et al. Fam Cancer. 2021 Apr; 20(2):123. View in: Pubmed

      • Letter to the Editor-Recent advances in Lynch syndrome: response to Møller et al. Fam Cancer. 2021 04; 20(2):121-122. View in: Pubmed

      • Familial Burden and Other Clinical Factors Associated With Various Types of Cancer in Individuals With Lynch Syndrome. Gastroenterology. 2021 07; 161(1):143-150.e4. View in: Pubmed

      • Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population. Fam Cancer. 2022 04; 21(2):167-180. View in: Pubmed

      • Dye-Based Chromoendoscopy in Patients With Lynch Syndrome: An Individual Patient Data Meta-Analysis of Randomized Trials. Am J Gastroenterol. 2021 Feb 11. View in: Pubmed

      • Implementing Systematic Genetic Counseling and Multigene Germline Testing for Individuals With Pancreatic Cancer. JCO Oncol Pract. 2021 02; 17(2):e236-e247. View in: Pubmed

      • Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2020 Nov 04. View in: Pubmed

      • Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2020 11; 159(5):1916-1934.e2. View in: Pubmed

      • Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2020 11; 115(11):1751-1767. View in: Pubmed

      • Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc. 2020 11; 92(5):997-1015.e1. View in: Pubmed

      • Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. Cancer Prev Res (Phila). 2021 02; 14(2):215-222. View in: Pubmed

      • Comparison of Colorectal and Endometrial Microsatellite Instability Tumor Analysis and Premm5 Risk Assessment for Predicting Pathogenic Germline Variants on Multigene Panel Testing. J Clin Oncol. 2020 12 01; 38(34):4086-4094. View in: Pubmed

      • Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis. N Engl J Med. 2020 09 10; 383(11):1028-1039. View in: Pubmed

      • Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals. Fam Cancer. 2021 04; 20(2):111-116. View in: Pubmed

      • Endoscopic Removal of Colorectal Lesions: Recommendations by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2020 03; 115(3):435-464. View in: Pubmed

      • 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 03; 115(3):415-434. View in: Pubmed

      • Endoscopic Removal of Colorectal Lesions-Recommendations by the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc. 2020 03; 91(3):486-519. View in: Pubmed

      • Spotlight: US Multi-Society Task Force on Colorectal Cancer Recommendations for Follow-up After Colonoscopy and Polypectomy. Gastroenterology. 2020 03; 158(4):1154. View in: Pubmed

      • A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors. Cancer Prev Res (Phila). 2020 03; 13(3):291-298. View in: Pubmed

      • Spotlight: US Multi-Society Task Force on Colorectal Cancer Recommendations for Endoscopic Removal of Colorectal Lesions. Gastroenterology. 2020 03; 158(4):1130. View in: Pubmed

      • Endoscopic Removal of Colorectal Lesions-Recommendations by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2020 03; 158(4):1095-1129. View in: Pubmed

      • Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2020 03; 158(4):1131-1153.e5. View in: Pubmed

      • Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc. 2020 03; 91(3):463-485.e5. View in: Pubmed

      • Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study. Hered Cancer Clin Pract. 2019; 17:31. View in: Pubmed

      • Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2020 01; 69(1):7-17. View in: Pubmed

      • Clinical Factors Associated with Urinary Tract Cancer in Individuals with Lynch Syndrome. Cancer Epidemiol Biomarkers Prev. 2020 01; 29(1):193-199. View in: Pubmed

      • Health behaviours and beliefs in individuals with familial pancreatic cancer. Fam Cancer. 2019 10; 18(4):457-464. View in: Pubmed

      • 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 08; 15(8):e1008344. View in: Pubmed

      • Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. Nat Genet. 2019 09; 51(9):1308-1314. View in: Pubmed

      • Clinical Factors Associated With Gastric Cancer in Individuals With Lynch Syndrome. Clin Gastroenterol Hepatol. 2020 04; 18(4):830-837.e1. View in: Pubmed

      • Surveillance for pancreatic cancer in high-risk individuals. BJS Open. 2019 10; 3(5):656-665. View in: Pubmed

      • Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting. Fam Cancer. 2019 07; 18(3):317-325. View in: Pubmed

      • Recent advances in Lynch syndrome. Fam Cancer. 2019 04; 18(2):211-219. View in: Pubmed

      • Intercepting Pancreatic Cancer: Our Dream Team's Resolve to Stop Pancreatic Cancer. Pancreas. 2018 Nov/Dec; 47(10):1175-1176. View in: Pubmed

      • Commentary: PREMM5 threshold of 2.5% is recommended to improve identification of PMS2 carriers. Fam Cancer. 2018 10; 17(4):567. View in: Pubmed

      • Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer. Genet Med. 2019 01; 21(1):213-223. View in: Pubmed

      • Germline Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis. JAMA. 2018 06 19; 319(23):2383-2385. View in: Pubmed

      • Precision Prevention and Early Detection of Cancer: Fundamental Principles. Cancer Discov. 2018 07; 8(7):803-811. View in: Pubmed

      • 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. View in: Pubmed

      • Relationship between individual and family characteristics and psychosocial factors in persons with familial pancreatic cancer. Psychooncology. 2018 07; 27(7):1711-1718. View in: Pubmed

      • Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer. Proc Natl Acad Sci U S A. 2018 05 01; 115(18):4767-4772. View in: Pubmed

      • Inherited DNA-Repair Defects in Colorectal Cancer. Am J Hum Genet. 2018 03 01; 102(3):401-414. View in: Pubmed

      • Poor performance of clinical prediction models: the harm of commonly applied methods. J Clin Epidemiol. 2018 06; 98:133-143. View in: Pubmed

      • Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives. Fam Cancer. 2017 07; 16(3):377-387. View in: Pubmed

      • Community Practice Implementation of a Self-administered Version of PREMM1,2,6 to Assess Risk for Lynch Syndrome. Clin Gastroenterol Hepatol. 2018 Jan; 16(1):49-58. View in: Pubmed

      • Reply to M.S. Daniels et al. J Clin Oncol. 2017 08 01; 35(22):2588-2589. View in: Pubmed

      • Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome. J Clin Oncol. 2017 Jul 01; 35(19):2165-2172. View in: Pubmed

      • Biallelic Mismatch Repair Deficiency: Management and Prevention of a Devastating Manifestation of the Lynch Syndrome. Gastroenterology. 2017 05; 152(6):1254-1257. View in: Pubmed

      • Universal Screening for Mismatch-Repair Deficiency in Endometrial Cancers to Identify Patients With Lynch Syndrome and Lynch-like Syndrome. Int J Gynecol Pathol. 2017 Mar; 36(2):115-127. View in: Pubmed

      • Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. J Clin Oncol. 2017 Apr 01; 35(10):1086-1095. View in: Pubmed

      • Comparison of Colonoscopy Quality Measures Across Various Practice Settings and the Impact of Performance Scorecards. Dig Dis Sci. 2017 04; 62(4):894-902. View in: Pubmed

      • Understanding the contribution of family history to colorectal cancer risk and its clinical implications: A state-of-the-science review. Cancer. 2016 09 01; 122(17):2633-45. View in: Pubmed

      • Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC). Carcinogenesis. 2016 08; 37(8):751-8. View in: Pubmed

      • Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer Epidemiol Biomarkers Prev. 2016 07; 25(7):1185-91. View in: Pubmed

      • Oncologists' Selection of Genetic and Molecular Testing in the Evolving Landscape of Stage II Colorectal Cancer. J Oncol Pract. 2016 Mar; 12(3):e308-19, 259-60. View in: Pubmed

      • Oncogastroenterology. J Clin Oncol. 2016 Apr 01; 34(10):1154-5. View in: Pubmed

      • A proposed staging system and stage-specific interventions for familial adenomatous polyposis. Gastrointest Endosc. 2016 Jul; 84(1):115-125.e4. View in: Pubmed

      • Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer. Cancer Discov. 2016 Feb; 6(2):166-75. View in: Pubmed

      • Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer. J Natl Cancer Inst. 2016 Feb; 108(2). View in: Pubmed

      • American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol. 2015 Nov 01; 33(31):3660-7. View in: Pubmed

      • Universal tumor screening for Lynch syndrome: Assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers. Cancer. 2015 Sep 15; 121(18):3281-9. View in: Pubmed

      • Patient experiences living with pancreatic cancer risk. Hered Cancer Clin Pract. 2015; 13(1):13. View in: Pubmed

      • Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology. 2015 Sep; 149(3):604-13.e20. View in: Pubmed

      • Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. JAMA Oncol. 2015 May; 1(2):214-21. View in: Pubmed

      • Linear-array EUS improves detection of pancreatic lesions in high-risk individuals: a randomized tandem study. Gastrointest Endosc. 2015 Nov; 82(5):812-8. View in: Pubmed

      • Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators. Genet Med. 2016 Feb; 18(2):152-61. View in: Pubmed

      • PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016 Jan; 18(1):13-9. View in: Pubmed

      • ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb; 110(2):223-62; quiz 263. View in: Pubmed

      • Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. Genet Med. 2015 Oct; 17(10):815-21. View in: Pubmed

      • 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 Apr; 84(4):575-80. View in: Pubmed

      • Colorectal cancer in young adults. Dig Dis Sci. 2015 Mar; 60(3):722-33. View in: Pubmed

      • 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 May; 13(5):963-9.e4. View in: Pubmed

      • Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. JAMA Dermatol. 2014 Dec; 150(12):1315-21. View in: Pubmed

      • BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. Genet Med. 2015 Jul; 17(7):569-77. View in: Pubmed

      • Changes in colorectal cancer screening intention among people aged 18-49 in the United States. BMC Public Health. 2014 Sep 01; 14:901. View in: Pubmed

      • Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology. 2014 Aug; 147(2):502-26. View in: Pubmed

      • 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 Aug; 80(2):197-220. View in: Pubmed

      • 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 Aug; 57(8):1025-48. View in: Pubmed

      • 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 Aug; 109(8):1159-79. View in: Pubmed

      • Recurrences are common after endoscopic ampullectomy for adenoma in the familial adenomatous polyposis (FAP) syndrome. Surg Endosc. 2014 Aug; 28(8):2349-56. View in: Pubmed

      • 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. View in: Pubmed

      • Therapy-associated polyposis as a late sequela of cancer treatment. Clin Gastroenterol Hepatol. 2014 Jun; 12(6):1046-50. View in: Pubmed

      • Racial and ethnic variations in the effects of family history of colorectal cancer on screening compliance. Gastroenterology. 2013 Oct; 145(4):775-81.e2. View in: Pubmed

      • Prediction models in Lynch syndrome. Fam Cancer. 2013 Jun; 12(2):217-28. View in: Pubmed

      • Elevated risk of prostate cancer among men with Lynch syndrome. J Clin Oncol. 2013 May 10; 31(14):1713-8. View in: Pubmed

      • Mutant TP53 in duodenal samples of pancreatic juice from patients with pancreatic cancer or high-grade dysplasia. Clin Gastroenterol Hepatol. 2013 Jun; 11(6):719-30.e5. View in: Pubmed

      • 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. View in: Pubmed

      • Mutant GNAS detected in duodenal collections of secretin-stimulated pancreatic juice indicates the presence or emergence of pancreatic cysts. Gut. 2013 Jul; 62(7):1024-33. View in: Pubmed

      • Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA. 2012 Aug 01; 308(5):485-492. View in: Pubmed

      • Identification of germline genomic copy number variation in familial pancreatic cancer. Hum Genet. 2012 Sep; 131(9):1481-94. View in: Pubmed

      • Knowledge of quality performance measures associated with endoscopy among gastroenterology trainees and the impact of a web-based intervention. Gastrointest Endosc. 2012 Jul; 76(1):100-6.e1-4. View in: Pubmed

      • Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases. Genet Med. 2012 Jul; 14(7):670-80. View in: Pubmed

      • Screening patients with colorectal cancer for Lynch syndrome: what are we waiting for? J Clin Oncol. 2012 Apr 01; 30(10):1024-7. View in: Pubmed

      • Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer. Gut. 2013 Feb; 62(2):272-9. View in: Pubmed

      • Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps. Cancer Prev Res (Phila). 2012 Apr; 5(4):574-82. View in: Pubmed

      • Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology. 2012 Apr; 142(4):796-804; quiz e14-5. View in: Pubmed

      • ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2012 Jan; 2(1):41-6. View in: Pubmed

      • Inherited colorectal cancer syndromes. Cancer J. 2011 Nov-Dec; 17(6):405-15. View in: Pubmed

      • Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome. Fam Cancer. 2011 Sep; 10(3):549-56. View in: Pubmed

      • An American founder mutation in MLH1. Int J Cancer. 2012 May 01; 130(9):2088-95. View in: Pubmed

      • Colorectal cancers with microsatellite instability display unique miRNA profiles. Clin Cancer Res. 2011 Oct 01; 17(19):6239-49. View in: Pubmed

      • Gastric cancer in individuals with Li-Fraumeni syndrome. Genet Med. 2011 Jul; 13(7):651-7. View in: Pubmed

      • Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk. Genet Med. 2011 Apr; 13(4):349-55. View in: Pubmed

      • Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat. 2011 Apr; 32(4):407-14. View in: Pubmed

      • Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011 Jan; 12(1):49-55. View in: Pubmed

      • Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila). 2011 Jan; 4(1):9-22. View in: Pubmed

      • 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. View in: Pubmed

      • Hereditary pancreatic cancer. Gastroenterology. 2010 Oct; 139(4):1076-80, 1080.e1-2. View in: Pubmed

      • Prevalence and predictors of appropriate colorectal cancer surveillance in Lynch syndrome. Am J Gastroenterol. 2010 Aug; 105(8):1851-60. View in: Pubmed

      • Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology. 2010 May; 138(5):1854-62. View in: Pubmed

      • Risk assessment, genetic testing, and management of Lynch syndrome. J Natl Compr Canc Netw. 2010 Jan; 8(1):98-105. View in: Pubmed

      • Rectal mucosal quantitative galactose oxidase-Schiff reaction as an early detection biomarker for colorectal cancer: comparison to fecal occult stool blood test. Cancer Biomark. 2010-2011; 8(2):109-12. View in: Pubmed

      • Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009 Oct 28; 302(16):1790-5. View in: Pubmed

      • Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res. 2009 Sep 01; 69(17):7053-61. View in: Pubmed

      • 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. View in: Pubmed

      • Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology. 2009 Nov; 137(5):1621-7. View in: Pubmed

      • Multivitamin use among multi-ethnic, low-income adults. Cancer Causes Control. 2009 Oct; 20(8):1271-80. View in: Pubmed

      • Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol. 2009 Jun; 104(6):1508-18. View in: Pubmed

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      Dana-Farber Cancer Institute

      450 Brookline Avenue Boston, MA 02215
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      Dana-Farber Cancer Institute

      Location Avtar

      Dana-Farber Cancer Institute

      450 Brookline Avenue Boston, MA 02215
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      42.3374, -71.1082