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Sapna Syngal, MD, MPH


Gastroenterology

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Physician

  • Director of Research, Center for Cancer Genetics and Prevention
  • Director, Gastrointestinal Cancer Genetics and Prevention Clinics
  • Director, Gastroenterology, Brigham and Women's Hospital
  • Senior Physician
  • Professor of Medicine, Harvard Medical School
  • Founder, Lynch Syndrome Center

Clinical Interests

  • Cancer screening and prevention
  • Familial cancer syndromes
  • Gastrointestinal cancers
  • Lynch syndrome

Contact Information

  • Appointments617-632-2178 (new patients)
    617-582-7777 (established patients)
    617-582-9113 (Lynch Syndrome Center questions and
  • Office Phone Number617-632-6164
  • Fax617-582-8807

Bio

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.

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 Gastrointestinal Cancers

Basic laboratory research, technology, and the pharmaceutical industry are creating a vast array of new diagnostic tests and potential therapies for cancer. Our research program focuses on studying the effectiveness of these technologies with the goal of providing individuals and their physicians with new cancer-prevention tools that include clarification of personal risk, primary prevention, novel screening techniques, and new chemotherapeutic agents.

One of the main goals of our research group is to evaluate the impact of genetic discoveries as tools for cancer risk assessment. We have designed a web-based risk assessment tool called PREMM which providers can use at no cost to determine the utility of recommending genetic testing for Lynch syndrome.  Currently, we are piloting a self-administered version of this tool to patients in a primary care practice with the aim of promoting a patient-centered approach to the management of hereditary colon cancer syndromes.  We are also working on expanding this clinical prediction model to include other hereditary colon cancer syndromes.

Our group is also interested in evaluating novel genetic and other biomarkers for early cancer detection as well as cancer prevention modalities. As part of the National Cancer Institute's Early Cancer Detection Research Network, we are participating in an ongoing multicenter study evaluating novel serum biomarkers for early colon cancer detection. In addition, we are also part of a multicenter clinical trial evaluating a pharmacological agent that may defer the need for surgical intervention in patients with known Familial Adenomatous Polyposis syndrome.

Since expanding our research to include the genetics and early detection of pancreatic cancer, we have developed the Dana-Farber/Harvard Cancer Center Pancreatic Cancer Genes Study registry, which collects data on family history and epidemiologic risk factors, as well as DNA and tissue samples. We are a funded site for the National Cancer Institute Pancreatic Cancer Genetic Epidemiologic Consortium study, whose mission is to identify susceptibility genes for pancreatic cancer to improve risk assessment and early detection.

COVID-19 related pancreatic cancer surveillance disruptions amongst high-risk individuals. Pancreatology. 2021 Apr 20.
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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.
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Correction to: Letter to the Editor-Recent advances in Lynch syndrome: response to Møller et al. Fam Cancer. 2021 Apr; 20(2):123.
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Letter to the Editor-Recent advances in Lynch syndrome: response to Møller et al. Fam Cancer. 2021 04; 20(2):121-122.
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Familial Burden and Other Clinical Factors Associated With Various Types of Cancer in Individuals With Lynch Syndrome. Gastroenterology. 2021 Jul; 161(1):143-150.e4.
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Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population. Fam Cancer. 2021 Mar 23.
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Dye-Based Chromoendoscopy in Patients With Lynch Syndrome: An Individual Patient Data Meta-Analysis of Randomized Trials. Am J Gastroenterol. 2021 Feb 11.
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Implementing Systematic Genetic Counseling and Multigene Germline Testing for Individuals With Pancreatic Cancer. JCO Oncol Pract. 2021 02; 17(2):e236-e247.
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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.
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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.
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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.
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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.
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Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. Cancer Prev Res (Phila). 2021 Feb; 14(2):215-222.
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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.
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Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis. N Engl J Med. 2020 09 10; 383(11):1028-1039.
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Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals. Fam Cancer. 2021 04; 20(2):111-116.
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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.
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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.
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Endoscopic Removal of Colorectal Lesions-Recommendations by the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc. 2020 03; 91(3):486-519.
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Spotlight: US Multi-Society Task Force on Colorectal Cancer Recommendations for Follow-up After Colonoscopy and Polypectomy. Gastroenterology. 2020 03; 158(4):1154.
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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.
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Spotlight: US Multi-Society Task Force on Colorectal Cancer Recommendations for Endoscopic Removal of Colorectal Lesions. Gastroenterology. 2020 03; 158(4):1130.
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Endoscopic Removal of Colorectal Lesions-Recommendations by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2020 03; 158(4):1095-1129.
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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.
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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.
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Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study. Hered Cancer Clin Pract. 2019; 17:31.
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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.
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Clinical Factors Associated with Urinary Tract Cancer in Individuals with Lynch Syndrome. Cancer Epidemiol Biomarkers Prev. 2020 01; 29(1):193-199.
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Health behaviours and beliefs in individuals with familial pancreatic cancer. Fam Cancer. 2019 10; 18(4):457-464.
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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.
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Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. Nat Genet. 2019 09; 51(9):1308-1314.
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Clinical Factors Associated With Gastric Cancer in Individuals With Lynch Syndrome. Clin Gastroenterol Hepatol. 2020 04; 18(4):830-837.e1.
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Surveillance for pancreatic cancer in high-risk individuals. BJS Open. 2019 10; 3(5):656-665.
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Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting. Fam Cancer. 2019 07; 18(3):317-325.
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Recent advances in Lynch syndrome. Fam Cancer. 2019 04; 18(2):211-219.
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Intercepting Pancreatic Cancer: Our Dream Team's Resolve to Stop Pancreatic Cancer. Pancreas. 2018 Nov/Dec; 47(10):1175-1176.
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Commentary: PREMM5 threshold of 2.5% is recommended to improve identification of PMS2 carriers. Fam Cancer. 2018 10; 17(4):567.
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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.
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Germline Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis. JAMA. 2018 06 19; 319(23):2383-2385.
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Precision Prevention and Early Detection of Cancer: Fundamental Principles. Cancer Discov. 2018 07; 8(7):803-811.
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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.
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Relationship between individual and family characteristics and psychosocial factors in persons with familial pancreatic cancer. Psychooncology. 2018 07; 27(7):1711-1718.
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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.
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Inherited DNA-Repair Defects in Colorectal Cancer. Am J Hum Genet. 2018 03 01; 102(3):401-414.
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Poor performance of clinical prediction models: the harm of commonly applied methods. J Clin Epidemiol. 2018 06; 98:133-143.
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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.
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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.
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Reply to M.S. Daniels et al. J Clin Oncol. 2017 08 01; 35(22):2588-2589.
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Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome. J Clin Oncol. 2017 Jul 01; 35(19):2165-2172.
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Biallelic Mismatch Repair Deficiency: Management and Prevention of a Devastating Manifestation of the Lynch Syndrome. Gastroenterology. 2017 05; 152(6):1254-1257.
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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.
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Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. J Clin Oncol. 2017 Apr 01; 35(10):1086-1095.
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Comparison of Colonoscopy Quality Measures Across Various Practice Settings and the Impact of Performance Scorecards. Dig Dis Sci. 2017 04; 62(4):894-902.
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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.
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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.
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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.
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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.
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Oncogastroenterology. J Clin Oncol. 2016 Apr 01; 34(10):1154-5.
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A proposed staging system and stage-specific interventions for familial adenomatous polyposis. Gastrointest Endosc. 2016 Jul; 84(1):115-125.e4.
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Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer. Cancer Discov. 2016 Feb; 6(2):166-75.
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Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer. J Natl Cancer Inst. 2016 Feb; 108(2).
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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.
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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.
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Patient experiences living with pancreatic cancer risk. Hered Cancer Clin Pract. 2015; 13(1):13.
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Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology. 2015 Sep; 149(3):604-13.e20.
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Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. JAMA Oncol. 2015 May; 1(2):214-21.
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Linear-array EUS improves detection of pancreatic lesions in high-risk individuals: a randomized tandem study. Gastrointest Endosc. 2015 Nov; 82(5):812-8.
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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.
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PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016 Jan; 18(1):13-9.
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ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb; 110(2):223-62; quiz 263.
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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.
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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.
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Colorectal cancer in young adults. Dig Dis Sci. 2015 Mar; 60(3):722-33.
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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.
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Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. JAMA Dermatol. 2014 Dec; 150(12):1315-21.
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BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. Genet Med. 2015 Jul; 17(7):569-77.
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Changes in colorectal cancer screening intention among people aged 18-49 in the United States. BMC Public Health. 2014 Sep 01; 14:901.
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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.
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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.
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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.
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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.
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Recurrences are common after endoscopic ampullectomy for adenoma in the familial adenomatous polyposis (FAP) syndrome. Surg Endosc. 2014 Aug; 28(8):2349-56.
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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.
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Therapy-associated polyposis as a late sequela of cancer treatment. Clin Gastroenterol Hepatol. 2014 Jun; 12(6):1046-50.
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Racial and ethnic variations in the effects of family history of colorectal cancer on screening compliance. Gastroenterology. 2013 Oct; 145(4):775-81.e2.
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Prediction models in Lynch syndrome. Fam Cancer. 2013 Jun; 12(2):217-28.
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Elevated risk of prostate cancer among men with Lynch syndrome. J Clin Oncol. 2013 May 10; 31(14):1713-8.
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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.
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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.
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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.
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Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA. 2012 Aug 01; 308(5):485-492.
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Identification of germline genomic copy number variation in familial pancreatic cancer. Hum Genet. 2012 Sep; 131(9):1481-94.
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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.
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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.
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Screening patients with colorectal cancer for Lynch syndrome: what are we waiting for? J Clin Oncol. 2012 Apr 01; 30(10):1024-7.
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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.
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Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps. Cancer Prev Res (Phila). 2012 Apr; 5(4):574-82.
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Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology. 2012 Apr; 142(4):796-804; quiz e14-5.
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ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2012 Jan; 2(1):41-6.
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Inherited colorectal cancer syndromes. Cancer J. 2011 Nov-Dec; 17(6):405-15.
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Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome. Fam Cancer. 2011 Sep; 10(3):549-56.
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An American founder mutation in MLH1. Int J Cancer. 2012 May 01; 130(9):2088-95.
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Colorectal cancers with microsatellite instability display unique miRNA profiles. Clin Cancer Res. 2011 Oct 01; 17(19):6239-49.
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Gastric cancer in individuals with Li-Fraumeni syndrome. Genet Med. 2011 Jul; 13(7):651-7.
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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.
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Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat. 2011 Apr; 32(4):407-14.
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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011 Jan; 12(1):49-55.
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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.
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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.
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Hereditary pancreatic cancer. Gastroenterology. 2010 Oct; 139(4):1076-80, 1080.e1-2.
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Prevalence and predictors of appropriate colorectal cancer surveillance in Lynch syndrome. Am J Gastroenterol. 2010 Aug; 105(8):1851-60.
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Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology. 2010 May; 138(5):1854-62.
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Risk assessment, genetic testing, and management of Lynch syndrome. J Natl Compr Canc Netw. 2010 Jan; 8(1):98-105.
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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.
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Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009 Oct 28; 302(16):1790-5.
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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.
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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.
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Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology. 2009 Nov; 137(5):1621-7.
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Multivitamin use among multi-ethnic, low-income adults. Cancer Causes Control. 2009 Oct; 20(8):1271-80.
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Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol. 2009 Jun; 104(6):1508-18.
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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.
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Genetic testing in gastroenterology: Lynch syndrome. Best Pract Res Clin Gastroenterol. 2009; 23(2):185-96.
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Colorectal cancer screening: prevalence among low-income groups with health insurance. Health Aff (Millwood). 2009 Jan-Feb; 28(1):169-77.
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Chromoendoscopy detects more adenomas than colonoscopy using intensive inspection without dye spraying. Cancer Prev Res (Phila). 2008 Dec; 1(7):507-13.
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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.
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Missed adenomas during colonoscopic surveillance in individuals with Lynch Syndrome (hereditary nonpolyposis colorectal cancer). Cancer Prev Res (Phila). 2008 Nov; 1(6):470-5.
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Obesity increases the risks of diverticulitis and diverticular bleeding. Gastroenterology. 2009 Jan; 136(1):115-122.e1.
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Gastropericardial fistula-induced pericarditis: an unusual consequence of GERD. Medscape J Med. 2008; 10(9):205.
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Nut, corn, and popcorn consumption and the incidence of diverticular disease. JAMA. 2008 Aug 27; 300(8):907-14.
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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.
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Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. J Med Genet. 2008 Sep; 45(9):557-63.
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Risk factors for mortality in lower intestinal bleeding. Clin Gastroenterol Hepatol. 2008 Sep; 6(9):1004-10; quiz 955-.
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Colorectal cancer screening awareness and intentions among low income, sociodemographically diverse adults under age 50. Cancer Causes Control. 2008 Dec; 19(10):1031-41.
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F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. JAMA. 2008 Mar 19; 299(11):1315-9.
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Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol. 2008 Mar; 6(3):333-8.
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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.
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Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology. 2008 Jan; 134(1):39-46.
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Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol. 2007 Oct; 34(5):418-24.
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Linkage analysis of chromosome 4 in families with familial pancreatic cancer. . 2007 Mar; 6(3):320-3.
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Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol. 2007 Jun; 102(6):1284-90.
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The comprehensiveness of family cancer history assessments in primary care. Community Genet. 2007; 10(3):174-80.
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Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006 Sep 27; 296(12):1469-78.
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Factors associated with enrollment in cancer genetics research. Cancer Epidemiol Biomarkers Prev. 2006 Jul; 15(7):1355-9.
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Detection of colorectal neoplasia associated K-Ras mutations in human urine. J Clin Oncol. 2006 Jun 20; 24(18_suppl):1005.
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Pancreatic cancer genetic epidemiology consortium. Cancer Epidemiol Biomarkers Prev. 2006 Apr; 15(4):704-10.
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Detection of stool DNA mutations before and after treatment of colorectal neoplasia. Cancer. 2006 Jan 15; 106(2):277-83.
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Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology. 2006 Jan; 130(1):73-9.
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Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol. 2005 Oct; 3(10):1022-8.
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Validation of a clinical prediction rule for severe acute lower intestinal bleeding. Am J Gastroenterol. 2005 Aug; 100(8):1821-7.
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Factors predicting willingness to participate in cancer genetic epidemiologic research. J Clin Oncol. 2005 Jun; 23(16_suppl):6007.
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Performance of the Revised Bethesda guidelines for identification of hereditary nonpolyposis colorectal cancer (HNPCC) mutation carriers. J Clin Oncol. 2005 Jun; 23(16_suppl):9506.
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Adenomas in young patients: what is the optimal evaluation? Am J Gastroenterol. 2005 May; 100(5):1150-3.
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Hereditary colorectal cancer syndromes. Cancer Causes Control. 2005 Apr; 16(3):201-13.
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Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol. 2005 Mar; 105(3):569-74.
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Surveillance of patients at high risk for colorectal cancer. Med Clin North Am. 2005 Jan; 89(1):61-84, vii-viii.
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Predictors of utilization of early colonoscopy vs. radiography for severe lower intestinal bleeding. Gastrointest Endosc. 2005 Jan; 61(1):46-52.
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Colon cancer screening strategies. Curr Opin Gastroenterol. 2005 Jan; 21(1):59-63.
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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.
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Cancer risk assessment: quality and impact of the family history interview. Am J Prev Med. 2004 Oct; 27(3):239-45.
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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.
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Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol. 2004 Sep; 2(9):813-9.
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The impact of family history of diabetes on glucose testing and counseling behavior in primary care. Diabetes Care. 2004 Sep; 27(9):2247-8.
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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.
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Human urine contains small, 150 to 250 nucleotide-sized, soluble DNA derived from the circulation and may be useful in the detection of colorectal cancer. J Mol Diagn. 2004 May; 6(2):101-7.
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Dysplasia in Barrett esophagus. Cancer. 2004 Apr 15; 100(8):1622-7.
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Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes. J Med Genet. 2004 Apr; 41(4):e44.
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Clinical presentation correlates with the type of mismatch repair gene involved in hereditary nonpolyposis colon cancer. Gastroenterology. 2004 Mar; 126(3):936-7.
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Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004 Feb 18; 96(4):261-8.
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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 04; 96(3):191-201.
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One less thing to worry about: the shrinking spectrum of tumors in BRCA founder mutation carriers. J Natl Cancer Inst. 2004 Jan 07; 96(1):2-3.
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Determinants of colorectal cancer screening in women undergoing mammography. Am J Gastroenterol. 2003 Aug; 98(8):1875-80.
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Cancer surveillance is often inadequate in people at high risk for colorectal cancer. J Med Genet. 2003 May; 40(5):e54.
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Early predictors of severity in acute lower intestinal tract bleeding. Arch Intern Med. 2003 Apr 14; 163(7):838-43.
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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.
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Genetic testing for hereditary nonpolyposis colorectal cancer. Curr Opin Gastroenterol. 2003 Jan; 19(1):57-63.
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Colon cancer screening strategies. Curr Opin Gastroenterol. 2002 Sep; 18(5):595-601.
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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.
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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.
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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.
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Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps. JAMA. 2000 Aug 16; 284(7):857-60.
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Hereditary nonpolyposis colorectal cancer: a call for attention. J Clin Oncol. 2000 Jun; 18(11):2189-92.
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Potential roles of genetic biomarkers in colorectal cancer chemoprevention. J Cell Biochem Suppl. 2000; 34:28-34.
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Germ-line msh6 mutations in colorectal cancer families. Cancer Res. 1999 Oct 15; 59(20):5068-74.
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Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. JAMA. 1999 Jul 21; 282(3):247-53.
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Long-term weight patterns and risk for cholecystectomy in women. Ann Intern Med. 1999 Mar 16; 130(6):471-7.
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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.
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Ulcerative colitis and colon cancer: more controversy than clarity. Dig Dis. 1998 Mar-Apr; 16(2):81-7.
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Colorectal cancer in women: an underappreciated but preventable risk. J Womens Health. 1998 Feb; 7(1):45-8.
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Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res. 1997 Nov 15; 57(22):5017-21.
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Nonsteroidal antiinflammatory drugs and the gastrointestinal tract. The double-edged sword. Arthritis Rheum. 1995 Jan; 38(1):5-18.
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