Matthew B. Yurgelun, MD, FASCO, CGAF

Matthew B. Yurgelun, MD, FASCO, CGAF

Medical Oncology

Contact Information

Office Phone Number





617-632-2178 (Cancer Genetics and Prevention)
617-582-7777 (established patients)
617-632-6835 (Gastrointestinal Cancer)
617-582-9113 (Lynch Syndrome Center questions and


Matthew B. Yurgelun, MD, FASCO, CGAF



Director, Lynch Syndrome Center
Senior Physician, Dana-Farber Cancer Institute
Associate Professor of Medicine, Harvard Medical School
Director of Clinical Research, Dana-Farber Cancer Institute Center for Cancer Genetics & Prevention

Clinical Interests

Familial adenomatous polyposis, Gastrointestinal cancer, Genetic testing and management of hereditary cancer syndromes, hereditary risk for gastrointestinal cancer, hereditary/familial pancreatic cancer, Lynch syndrome

Board Certification

  • Medical Oncology


  • Beth Israel Deaconess Medical Center, Medical Oncology


  • Beth Israel Deaconess Medical Center

Medical School

  • Columbia University College of Physicians & Surgeons, MD

Recent Awards

  • 2022; Dana-Farber Cancer Institute's George P. Canellos, MD Award for Recognition of Excellence in Clinical Investigation
  • 2022; Fellow of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGAF)
  • 2023; Fellow of the American Society of Clinical Oncology (FASCO)


    Cancer Genetics and Prevention, Gastrointestinal Cancer

    Dr. Yurgelun is a gastrointestinal medical oncologist at the Dana-Farber Cancer Institute affiliated with both the Gastrointestinal Cancer Center and the Cancer Genetics and Prevention Program.  He has a longstanding special interest in studying the diagnosis, phenotypes, and management of patients with Lynch syndrome and other hereditary gastrointestinal cancer syndromes. His current research includes studying the benefits and limitations of using widespread multi-gene panel testing – rather than criteria-based targeted genetic testing – in the evaluation of patients at risk for hereditary cancer syndromes.


      • Leveraging Electronic Health Record Data to Understand Gaps Underlying the Underdiagnosis of Lynch Syndrome. JCO Clin Cancer Inform. 2024 Jun; 8:e2400032. View in: Pubmed

      • Gastrointestinal Cancer Precursor Conditions and Their Detection. Hematol Oncol Clin North Am. 2024 May 16. View in: Pubmed

      • A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study. Gastroenterology. 2024 05; 166(5):872-885.e2. View in: Pubmed

      • Biomarkers of pembrolizumab efficacy in advanced anal squamous cell carcinoma: analysis of a phase II clinical trial and a cohort of long-term responders. J Immunother Cancer. 2024 01 25; 12(1). View in: Pubmed

      • Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome. Front Oncol. 2023; 13:1284690. View in: Pubmed

      • Oncogenic Drivers and Therapeutic Vulnerabilities in KRAS Wild-Type Pancreatic Cancer. Clin Cancer Res. 2023 11 14; 29(22):4627-4643. View in: Pubmed

      • NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. J Natl Compr Canc Netw. 2023 10; 21(10):1000-1010. View in: Pubmed

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

      • Adipose tissue and skeletal muscle wasting precede clinical diagnosis of pancreatic cancer. Nat Commun. 2023 07 18; 14(1):4317. View in: Pubmed

      • Serendipity Strikes: How Pursuing Novel Hypotheses Shifted the Paradigm Regarding the Genetic Basis of Colorectal Cancer and Changed Cancer Therapy. Dig Dis Sci. 2023 09; 68(9):3504-3513. View in: Pubmed

      • Is Appendiceal Cancer a Lynch Syndrome-Associated Cancer? JAMA Oncol. 2023 06 01; 9(6):869. View in: Pubmed

      • G-CSF rescue of FOLFIRINOX-induced neutropenia leads to systemic immune suppression in mice and humans. J Immunother Cancer. 2023 06; 11(6). View in: Pubmed

      • Phase Ib and Expansion Study of Gemcitabine, Nab-Paclitaxel, and Ficlatuzumab in Patients With Metastatic Pancreatic Cancer. Oncologist. 2023 05 08; 28(5):425-432. View in: Pubmed

      • Aberrant cell state plasticity mediated by developmental reprogramming precedes colorectal cancer initiation. Sci Adv. 2023 03 29; 9(13):eadf0927. 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

      • Combined PD-1, BRAF and MEK inhibition in BRAFV600E colorectal cancer: a phase 2 trial. Nat Med. 2023 02; 29(2):458-466. 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

      • Programmatic Precision Oncology Decision Support for Patients With Gastrointestinal Cancer. JCO Precis Oncol. 2023 01; 7:e2200342. 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

      • Prevalence of Mismatch-Repair Deficiency in Rectal Adenocarcinomas. N Engl J Med. 2022 11 03; 387(18):1714-1716. View in: Pubmed

      • An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genet Med. 2022 12; 24(12):2587-2590. View in: Pubmed

      • Preface. Hematol Oncol Clin North Am. 2022 Oct; 36(5):xiii-xiv. View in: Pubmed

      • An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes. Front Oncol. 2022; 12:942741. 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 Evolving Paradigm of Germline Testing in Pancreatic Ductal Adenocarcinoma and Implications for Clinical Practice. Surg Pathol Clin. 2022 Sep; 15(3):491-502. View in: Pubmed

      • Building on More Than 20 Years of Progress in Pancreatic Cancer Surveillance for High-Risk Individuals. J Clin Oncol. 2022 10 01; 40(28):3230-3234. View in: Pubmed

      • Point/Counterpoint: Is It Time for Universal Germline Genetic Testing for All GI Cancers? J Clin Oncol. 2022 08 20; 40(24):2681-2692. View in: Pubmed

      • Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program. Clin Cancer Res. 2022 06 01; 28(11):2349-2360. View in: Pubmed

      • Physical activity in older adults with metastatic gastrointestinal cancer: a pilot and feasibility study. BMJ Open Sport Exerc Med. 2022; 8(2):e001353. View in: Pubmed

      • Cetuximab and Irinotecan With or Without Bevacizumab in Refractory Metastatic Colorectal Cancer: BOND-3, an ACCRU Network Randomized Clinical Trial. Oncologist. 2022 04 05; 27(4):292-298. View in: Pubmed

      • Risk assessment and genetic counseling for Lynch syndrome - Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer. J Genet Couns. 2022 06; 31(3):568-583. View in: Pubmed

      • Lynch Syndrome-Associated Cancers Beyond Colorectal Cancer. Gastrointest Endosc Clin N Am. 2022 Jan; 32(1):75-93. View in: Pubmed

      • Surveillance Imaging in Individuals at High Risk for Pancreatic Cancer: Not a Ceiling, but Rather a Floor Upon Which to Build. Gastroenterology. 2022 03; 162(3):700-702. View in: Pubmed

      • Durable clinical benefit from PARP inhibition in a platinum-sensitive, BRCA2-mutated pancreatic cancer patient after earlier progression on placebo treatment on the POLO trial: a case report. J Gastrointest Oncol. 2021 Dec; 12(6):3133-3140. View in: Pubmed

      • A Case of Microsatellite Instability-High Colon Cancer in a Young Woman With Familial Adenomatous Polyposis. J Natl Compr Canc Netw. 2021 12; 19(12):1377-1381. 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

      • NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021. J Natl Compr Canc Netw. 2021 10 15; 19(10):1122-1132. 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

      • 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

      • A Case-Based Approach to Understanding Complex Genetic Information in an Evolving Landscape. Am Soc Clin Oncol Educ Book. 2021 Mar; 41:1-11. View in: Pubmed

      • Managing gastric cancer risk in lynch syndrome: controversies and recommendations. Fam Cancer. 2022 01; 21(1):75-78. 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

      • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021 01 06; 19(1):77-102. View in: Pubmed

      • Effect of High-Dose vs Standard-Dose Vitamin D3 Supplementation on Body Composition among Patients with Advanced or Metastatic Colorectal Cancer: A Randomized Trial. Cancers (Basel). 2020 Nov 20; 12(11). 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

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

      • Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis. Fam Cancer. 2020 07; 19(3):223-239. View in: Pubmed

      • Aspirin for Lynch syndrome: a legacy of prevention. Lancet. 2020 06 13; 395(10240):1817-1818. View in: Pubmed

      • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. J Natl Compr Canc Netw. 2020 04; 18(4):380-391. 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

      • Correction to: Health Care Provider Perceptions of Caring for Individuals with Inherited Pancreatic Cancer Risk. J Cancer Educ. 2020 Feb; 35(1):204. View in: Pubmed

      • Identification of Lynch syndrome by microsatellite instability and mismatch repair deficiency testing on colorectal adenomas. Eur J Hum Genet. 2020 03; 28(3):275-276. 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

      • Precision Treatment and Prevention of Colorectal Cancer-Hope or Hype? Gastroenterology. 2020 01; 158(2):441-446. View in: Pubmed

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

      • Targeted Cancer Next-Generation Sequencing as a Primary Screening Tool for Microsatellite Instability and Lynch Syndrome in Upper Gastrointestinal Tract Cancers. Cancer Epidemiol Biomarkers Prev. 2019 07; 28(7):1246-1251. View in: Pubmed

      • Effect of High-Dose vs Standard-Dose Vitamin D3 Supplementation on Progression-Free Survival Among Patients With Advanced or Metastatic Colorectal Cancer: The SUNSHINE Randomized Clinical Trial. JAMA. 2019 04 09; 321(14):1370-1379. View in: Pubmed

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

      • FOLFOX plus ziv-aflibercept or placebo in first-line metastatic esophagogastric adenocarcinoma: A double-blind, randomized, multicenter phase 2 trial. Cancer. 2019 07 01; 125(13):2213-2221. View in: Pubmed

      • Family history of cancer, Ashkenazi Jewish ancestry, and pancreatic cancer risk. Br J Cancer. 2019 04; 120(8):848-854. View in: Pubmed

      • Multigene panel testing versus syndrome-specific germline testing for inherited cancer risk: 'a somewhat different way'. Per Med. 2019 03; 16(2):83-86. View in: Pubmed

      • Genetics of Familial and Sporadic Pancreatic Cancer. Gastroenterology. 2019 05; 156(7):2041-2055. View in: Pubmed

      • Tumor Testing for Microsatellite Instability to Identify Lynch Syndrome: New Insights Into an Old Diagnostic Strategy. J Clin Oncol. 2019 02 01; 37(4):263-265. View in: Pubmed

      • Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion. J Clin Oncol. 2019 01 10; 37(2):153-164. View in: Pubmed

      • A Phase II and Biomarker Study of Sorafenib Combined with Modified FOLFOX in Patients with Advanced Hepatocellular Carcinoma. Clin Cancer Res. 2019 01 01; 25(1):80-89. 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

      • Validation of a targeted next-generation sequencing approach to detect mismatch repair deficiency in colorectal adenocarcinoma. Mod Pathol. 2018 12; 31(12):1882-1890. View in: Pubmed

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

      • Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine. Cancer Discov. 2018 09; 8(9):1096-1111. View in: Pubmed

      • Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention. Am Soc Clin Oncol Educ Book. 2018 May 23; 38:101-109. View in: Pubmed

      • A counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genet Med. 2018 11; 20(11):1324-1327. View in: Pubmed

      • Recent progress in Lynch syndrome and other familial colorectal cancer syndromes. CA Cancer J Clin. 2018 05; 68(3):217-231. View in: Pubmed

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

      • The Role of Genetic Counseling in Familial and Sporadic Cancer: Considerations, Challenges, and Collaboration. Ann Intern Med. 2017 12 19; 167(12):884-885. View in: Pubmed

      • Germline Testing for Individuals With Pancreatic Cancer: The Benefits and Challenges to Casting a Wider Net. J Clin Oncol. 2017 10 20; 35(30):3375-3377. 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

      • Mutational cascades in cancer. Oncotarget. 2017 Jun 27; 8(26):41784-41785. 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

      • Precancer Atlas to Drive Precision Prevention Trials. Cancer Res. 2017 04 01; 77(7):1510-1541. 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

      • Historical Perspective on Familial Gastric Cancer. Cell Mol Gastroenterol Hepatol. 2017 Mar; 3(2):192-200. View in: Pubmed

      • A phase 2 and biomarker study of cabozantinib in patients with advanced cholangiocarcinoma. Cancer. 2017 06 01; 123(11):1979-1988. View in: Pubmed

      • Translating Germline Cancer Risk into Precision Prevention. Cell. 2017 02 09; 168(4):566-570. 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

      • "New" Cancer Genes and Inherited Colorectal Cancer Risk: Caveat Emptor. Gastroenterology. 2017 01; 152(1):12-13. View in: Pubmed

      • Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing. J Mol Diagn. 2017 01; 19(1):84-91. View in: Pubmed

      • Leveraging premalignant biology for immune-based cancer prevention. Proc Natl Acad Sci U S A. 2016 09 27; 113(39):10750-8. View in: Pubmed

      • Genetic predisposition to colorectal cancer: Implications for treatment and prevention. Semin Oncol. 2016 Oct; 43(5):536-542. View in: Pubmed

      • Advances in Hereditary Colorectal and Pancreatic Cancers. Clin Ther. 2016 Jul; 38(7):1600-21. View in: Pubmed

      • Population-Wide Screening for Germline BRCA1 and BRCA2 Mutations: Too Much of a Good Thing? J Clin Oncol. 2015 Oct 01; 33(28):3092-5. 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

      • Next-generation strategies for hereditary colorectal cancer risk assessment. J Clin Oncol. 2015 Feb 10; 33(5):388-93. View in: Pubmed

      • Phase II study of gemcitabine, oxaliplatin in combination with panitumumab in KRAS wild-type unresectable or metastatic biliary tract and gallbladder cancer. Br J Cancer. 2014 Jul 29; 111(3):430-6. 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

      • 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

      • 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

      • Recruitment of osteoclast precursors by stromal cell derived factor-1 (SDF-1) in giant cell tumor of bone. J Orthop Res. 2005 Jan; 23(1):203-9. View in: Pubmed


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      Dana-Farber Cancer Institute - Chestnut Hill

      300 Boylston Street Newton, MA 02459
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      Dana-Farber Cancer Institute - Chestnut Hill

      Location Avtar

      Dana-Farber Cancer Institute - Chestnut Hill

      300 Boylston Street Newton, MA 02459
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      Matthew B. Yurgelun, MD, FASCO, CGAF

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