Gastrointestinal Cancer Genetics Clinical Trials and Research

Clinical trials give our patients more diagnostic, screening and treatment options than ever before, and clinical research studies are important for studying new ideas that may ultimately lead to improvements in patient care. The Gastrointestinal Cancer Genetics Program is involved in many local and national clinical trials and studies.

Lynch Syndrome/Colorectal Cancer

  • Lynch syndrome Immune Profiling Project (LIP2)
    The goal of this study is to characterize the immune profile in peripheral blood of individuals with Lynch syndrome and also to determine the immune response to vaccinations in individuals with Lynch syndrome. Eligible patients are those with Lynch syndrome as documented by a pathogenic/likely pathogenic germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM. Participants will be asked to provide a research blood sample one or more times per year.

  • Lynch syndrome mucosal Immune and MicroBiOme initiative (LIMBO)
    The goal of this study is to better understand the immune system and microbiome (bacteria) of the colon in individuals with Lynch syndrome and how they may contribute to the development of colon polyps and colon cancer. Eligible patients include those who have Lynch syndrome as documented by a pathogenic/likely pathogenic germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM and who are undergoing a colonoscopy or flexible sigmoidoscopy. Participants will provide a research stool sample prior to the procedure and research biopsies will be obtained from the colon during the procedure.

  • Pilot Study of Mature Dendritic Cell Vaccination for Resected Hypermutated Colorectal Cancer
    This is a pilot study to assess the safety and tolerability, as well as the immune response rate, of mDC3 vaccine in patients with resected hypermutated colorectal cancer. Eligible patients that provide written informed consent will undergo apheresis to collect blood mononuclear cells for vaccine production approximately 1 week prior to vaccine infusion. Each study subject will receive IV cyclophosphamide 3 to 4 days prior to the vaccine dose to deplete regulatory T cells. On Day 1, the subject will receive the primer vaccine dose; this will be followed by two booster vaccine doses at 6 weeks and 12 weeks after. Peripheral blood will be taken weekly, and a second apheresis procedure will be performed after the last vaccine to monitor the immune response. Information will be gathered from routine clinic visits for approximately 1 year to evaluate for disease progression. Learn more

  • Analysis of Primary and Metastatic Colorectal Cancer
    This is an observational study that aims to further understand the development and progression of primary and metastatic colorectal cancers through bio-sample collection (blood, leftover tissue) from individuals diagnosed with colorectal cancer who are undergoing surgery. The goals of this study are to utilize these collected bio-samples to promote research in colorectal cancer in order to improve future diagnostics, monitoring, and treatments options for this disease. Eligible patients will undergo two blood draws (one before surgery and one after surgery) and extra leftover tissue from their surgery will be collected.


  • Characterization of the Microbiome and Metabolome in Individuals with Colonic Polyposis
    The goal of this study is to better understand the mechanisms whereby polyps form in the colon through characterizing the microbiome (bacteria that live in the colon) and metabolome (byproducts that these bacteria make). Eligible patients include those with a history of 10 or more total prior colonic adenomas, with or without a genetic predisposition to polyp formation, as well as those without a significant history of colonic adenomas (two or less). Participants will provide a research stool sample prior to their colonoscopy/flexible sigmoidoscopy. In addition, research biopsies will be obtained during their procedure.

Pancreatic Cancer

  • Preliminary Evaluation of Screening for Pancreatic Cancer in Patients with Inherited Genetic Risk
    This study is a prospective, observational, case-control study evaluating the utility of endoscopic ultrasound or MRI for the identification of pre-neoplastic and neoplastic pancreatic lesions in patients at high risk for pancreatic cancer, specifically those with BRCA1, BRCA2, PALB2, and ATM mutations.

  • The Cancer of the Pancreas Screening-5 (CAPS5) Study
    This is a multi-center study with the goal of determining the prevalence of pancreatic lesions, pancreatic fluid mutations and circulating pancreatic epithelial cells among a large cohort of high-risk individuals undergoing pancreatic screening and surveillance. Eligible patients include those with a strong family history of pancreatic cancer on one side of their family, Peutz-Jeghers syndrome, or a confirmed germline mutation in a gene that is known to increase the risk of pancreatic cancer development (BRCA1/2, FAMMM [p16/CDKN2A], PALB2, ATM, Lynch syndrome [MLH1, MSH2, MSH6, PMS1, EPCAM], or hereditary pancreatitis [PRSS1/2 or CTRC]). Participants will undergo annual monitoring of the pancreas, primarily through the use of endoscopic ultrasound. Learn more

  • Pancreatic Cancer Early Detection (PRECEDE) Consortium
    The purpose of the PancReatic Cancer Early DEtection (PRECEDE) Consortium is to conduct research on multiple aspects of early detection and prevention of pancreatic cancer. This will be done by establishing a multi-site cohort of individuals with a strong family history of pancreatic cancer and/or individuals carrying mutations in genes linked to pancreatic cancer risk for longitudinal follow up. Enrollment in this study does not preclude enrollment in other pancreatic cancer early detection studies. The PRECEDE consortium is sponsored by Project Purple. Learn more

View the full list of clinical trials

Gastric Cancer

  • Defining the Role of Germline Genetic Variants in Gastric Cancer Tumorigenesis
    The goal of this study is to help understand how differences in genes can increases one’s risk of developing gastric (stomach) cancer. Individuals can participate if they are undergoing an upper endoscopy as part of their routine care and are age 18 or older. Individuals who carry a known genetic risk factor for gastric cancer, individuals with a strong family history of gastric cancer, and individuals with no known risk factors for gastric cancer are all eligible to participate. Eligible participants will have a research blood sample collected and will have research biopsies collected during their upper endoscopy.

  • CTNNA1 Familial Expansion Study (CAFÉ)
    The CTNNA1 Familial Expansion Study (CAFÉ) is an online international research registry looking for patients and their families to help expand our knowledge of the CTNNA1 gene. The purpose of this study is to follow people with CTNNA1 variants so that researchers can more clearly understand the cancer risks associated with this newly identified gene, which will help us better understand how to manage cancer risk in families with this gene. We hope to create an international registry of CTNNA1 carriers for long-term data collection which will help better define the cancer risks associated with CTNNA1 variants and will aid in managing cancer risks for affected families.

Gastrointestinal Cancer and Polyposis Registry

Every day, we work to better understand, diagnose and treat hereditary gastrointestinal cancer and polyposis syndromes. One way that we're doing this at Penn Medicine is through the Gastrointestinal Cancer and Polyposis Registry. The Gastrointestinal Cancer and Polyposis Registry is a voluntary research registry for patients, which facilitates research on gastrointestinal cancer and polyposis syndromes. Patient participation in this registry enables our clinical staff to store medical and family history information, and allows us to contact participants in the future if we have updated information on testing results, new testing options or advances related to a condition, research opportunities, clinical trials or new therapies.

Learn more about the Gastrointestinal Cancer and Polyposis Registry by downloading our guide and consent form.

Gastrointestinal Cancer Genetics Research and Publications

Physicians and researchers from this program are actively participating in research related to gastrointestinal cancer and gastrointestinal cancer genetics. View select publications from our team.

2021 Publications

  • McKenna DB, Dudzik CM, Kumar S, Mahmud N, Katona BW. COVID-19 disruptions to endoscopic surveillance in Lynch syndrome. Cancer Prev Res. 2021 Feb 24. canprevres. doi: 10.1158/1940-6207. [PubMed]
  • Katona BW, Long JM, Ahmad NA, Attalla S, Bradbury AR, Carpenter EL, Clark DF, Constantino G, Das KK, Domchek SM, Dudzik C, Ebrahimzadeh J, Ginsberg GG, Heiman J, Kochman ML, Maxwell KN, McKenna DB, Powers J, Shah PD, Wangensteen KJ, Rustgi AK. EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer. Cancer Prev Res (Phila). 2021 Nov;14 (11):1033-1040. doi: 10.1158/1940-6207.CAPR-21-0161. Epub 2021 Aug 2.PMID: 34341011 [PubMed]
  • Mezina A, Philips N, Bogus Z, Erez N, Xiao R, Fan R, Olthoff KM, Reddy KR, Samadder NJ, Nielsen SM, Hatchell KE, Esplin ED, Rustgi AK, Katona BW, Hoteit MA, Nathanson KL, Wangensteen KJ. Multigene Panel Testing in Individuals With Hepatocellular Carcinoma Identifies Pathogenic Germline Variants. JCO Precis Oncol. 2021 Jun 10;5:PO.21.00079. doi: 10.1200/PO.21.00079. PMID: 34250406; PMCID: PMC8232566. [PubMed]
  • Kumar S, Saumoy M, Oh A, Schneider Y, Brand RE, Chak A, Ginsberg GG, Kochman ML, Canto MI, Goggins MG, Hur C, Kastrinos F, Katona BW, Rustgi AK. Threshold Analysis of the Cost-effectiveness of Endoscopic Ultrasound in Patients at High Risk for Pancreatic Ductal Adenocarcinoma. Pancreas. 2021 Jul 1;50(6):807-814. doi: 10.1097/MPA.0000000000001835. PMID: 34149034; PMCID: PMC8577312. [PubMed]
  • Katona BW, Mahmud N, Dbouk M, Ahmad N, Chhoda A, Dudley B, Hayat U, Kwon RS, Lee LS, Rustgi AK, Ukaegbu C, Vasquez L, Volk S, Brand RE, Canto MI, Chak A, Farrell JJ, Kastrinos F, Stoffel EM, Syngal S, Goggins M. COVID-19 related pancreatic cancer surveillance disruptions amongst high-risk individuals. Pancreatology. 2021 Apr 20;21(6):1048–51. doi: 10.1016/j.pan.2021.04.005. Epub ahead of print. PMID: 33926820; PMCID: PMC8055495. [PubMed]

2020 Publications

  • Ebrahimzadeh JE, Long JM, Wang L, Nathanson JT, Siddique SM, Rustgi AK, Goldberg DS, Katona BW. Associations of sociodemographic and clinical factors with gastrointestinal cancer risk assessment appointment completion. J Genet Couns. 2020 Mar 30. doi: 10.1002/jgc4.1254. [PubMed]
  • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW. Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [PubMed]
  • Yang Z, LaRiviere MJ, Ko J, Till JE, Christensen T, Yee SS, Black TA, Tien K, Lin A, Shen H, Bhagwat N, Herman D, Adallah A, O'Hara MH, Vollmer CM, Katona BW, Stanger BZ, Issadore D, Carpender EL. A Multianalyte Panel Consisting of Extracellular Vesicle miRNAs and mRNAs, cfDNA, and CA19-9 Shows Utility for Diagnosis and Staging of Pancreatic Ductal Adenocarcinoma. Clin Cancer Res. 2020 Apr 16. doi: 10.1158/1078-0432.CCR-19-3313. [PubMed]
  • Katona BW, Powers J, McKenna DB, Long JM, Le AN, Hausler R, Zelley K, Jennings S, Domchek SM, Nathanson KL, MacFarland SP, Maxwell KN. Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome. Am J Gastroenterol. 2020 Sep 22. doi: 10.14309/ajg.0000000000000935. Online ahead of print. [PubMed] PMID: 32969947
  • Kumar S, Dudzik CM, Reed M, Long JM, Wangensteen KJ, Katona BW. Upper Endoscopic Surveillance in Lynch Syndrome Detects Gastric and Duodenal Adenocarcinomas. Cancer Prev Res (Phila). 2020 Aug 28. doi: 10.1158/1940-6207.CAPR-20-0269. Online ahead of print. [PubMed] PMID: 32859614
  • Powers J, Sande CM, Fortuna D, Katona BW. Multifocal Intramucossal Gastric Adenocarcinoma Arising in Fundic Gland Polyposis Due to Gastric Adenocarcinoma and Proximal Polyposis of the Stomach. Am J Gastroenterol. 2020 May 22. doi: 10.14309/ajg.0000000000000625. Online ahead of print. [PubMed] PMID: 32453049 No abstract available.
  • MacFarland SP, Ebrahimzadeh JE, Zelley K, Begum L, Bass LM, Brand RE, Dudley B, Fishman DS, Ganzak A, Karloski E, Latham A, Llor X, Plon S, Riordan MK, Scollon SR, Stadler ZK, Syngal S, Ukaegbu C, Weiss JM, Yurgelun MB, Brodeur GM, Mamula P, Katona BW. Phenotypic differences in Juvenile Polyposis Syndrome with or without a disease-causing SMAD4/BMPR1A variant. Cancer Prev Res (Phila). 2020 Oct 23. doi: 10.1158/1940-6207.CAPR-20-0348. Online ahead of print. [PubMed] PMID: 33097490

2019 Publications

  • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW. Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [PubMed]
  • Powers JM, Ebrahimzadeh JE, Katona BW. Genetic testing for hereditary gastrointestinal cancer syndromes: Interpreting results in today's practice. Curr Treat Options Gastroenterol. 2019 Nov 25. doi: 10.1007/s11938-019-00253-2. [PubMed]
  • Katona BW, Weiss JM. Chemoprevention of Colorectal Cancer. Gastroenterology. 2019 Sep 26. pii: S0016-5085(19)41364-4. doi: 10.1053/j.gastro.2019.06.047 [PubMed]
  • Kumar S, Long JM, Ginsberg GG, Katona BW. The role of endoscopy in the management of hereditary diffuse gastric cancer syndrome. World J Gastroenterol. 2019 Jun 21;25(23):2878-2886. doi: 10.3748/wjg.v25.i23.2878. [PubMed]
  • MacFarland SP, Zelley K, Katona BW, Wilkins BJ, Brodeur GM, Mamula P. Gastrointestinal Polyposis in Pediatric Patients. J Pediatr Gastroenterol Nutr. 2019 Sep;69(3):273-280. doi: 10.1097/MPG.0000000000002421. [PubMed]
  • Kumar S, Katona BW, Long JM, Domchek S, Rustgi AK, Roses R, Ginsberg GG. Endoscopic Ultrasound Has Limited Utility in Diagnosis of Gastric Cancer in Carriers of CDH1 Mutations. Clin Gastroenterol Hepatol. 2019 May 8. pii: S1542-3565(19)30496-3. doi: 10.1016/j.cgh.2019.04.064. No abstract available. [PubMed]
  • Katona, B.W., Stadler, Z.K., Robson, M.E., Domchek, S.M. RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis. Journal of the National Cancer Institute, 2019, in press. [PubMed]
  • MacFarland S.P., Zelley K., Long J.M., McKenna D., Mamula P., Domchek S.M., Nathanson K.L., Brodeur G.M., Rustgi A.K., Katona B.W., Maxwell K.N. Earlier colorectal cancer screening may be necessary in patients with Li-Fraumeni Syndrome. Gastroenterology, 2019, 156(1), 273-274. [PubMed]
  • McKenna D.B., Akker J.V.D., Zhou A.Y., Ryan L., Leon A., O'Connor R., Shah P.D., Rustgi A.K., Katona B.W. Identification of a novel GREM1 duplication in a patient with multiple colon polyps. Familial Cancer, 2019, 18(1), 63-66. [PubMed]

2018 Publications

  • Muller C., Lee S.M., Barge W., Siddique S.M., Berera S., Wideroff G., Tondon R., Chang J., Peterson M., Stoll J., Katona B.W., Sussman D.A., Melson J., Kupfer S.S. Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening. Clinical Gastroenterology and Hepatology, 2018, 16(12), 1911-1918. [PubMed]
  • Katona, B.W., Yurgelun, M.B., Garber, J.E., Offit, K., Domchek, S.M., Robson, M.E., Stadler, Z.K. A counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genetics in Medicine, 2018, 20(11), 1324-1327. [PubMed]

2017 Publications

  • Katona B.W. and Yang Y.X. Colorectal cancer risk associated with the CHEK2 1100delC variant. European Journal of Cancer. 2017 Jul 19; 83, 103-105. [PubMed]
  • Katona B.W. and Rustgi A.K. Gastric Cancer Genomics: Advances and Future Directions. Cellular and Molecular Gastroenterology and Hepatology. 2017 Jan 14; 14;3(2):211-217. [PubMed]

2016 Publications

  • Heeg S., Das K.K., Reichert M., Bakir B., Takano S., Caspers J., Aiello NM., Wu K., Neesse A., Maitra A., Iacobuzio-Donahue C.A., Hicks P., Rustgi A.K. ETS-Transcription Factor ETV1 Regulates Stromal Expansion and Metastasis in Pancreatic Cancer. Gastroenterology. 2016, 151(3): 540-553. [PubMed]
  • Bradbury A., Patrick-Miller L., Harris D., Stevens E., Egleston B., Smith K., Mueller R., Brandt A., Stopfer J., Rauch S., Forman A., Kim R., Fetzer D., Fleisher L., Daly M., Domchek S. Utilizing Remote Real-Time Videoconferencing to Expand Access to Cancer Genetic Services in Community Practices: A Multicenter Feasibility Study. Journal of Medical Internet Research. 2016, 18(2):e23. [PubMed]

2015 Publications

  • Riff B.P., Katona B.W., Wilkerson M., Nathanson K.L., Metz D.C. HNPCC-associated pheochromocytoma: expanding the tumor spectrum. Pancreas, 2015, 44(4): 676-8. [PubMed]
  • Bradbury A.R., Patrick-Miller L., Long J., Powers J., Stopfer J., Forman A., Rybak C., Mattie K., Brandt A., Chambers R., Chung W.K., Churpek J., Daly M.B., Digiovanni L., Farengo-Clark D., et al. Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genetics in Medicine. 2015, 17: 485–492. [PubMed]

2014 Publications

  • Katona B.W., Liu Y., Ma A., Jin J., Hua X. EZH2 inhibition enhances the efficacy of an EGFR inhibitor in suppressing colon cancer cells. Cancer Biology & Therapy, 2014, 15(12): 1677-87. [PubMed]
  • Rustgi A.K. Familial pancreatic cancer: genetic advances. Genes and Development. 2014, 28(1): 1-7. [PubMed]
  • Bonadies D.C., Brierley K.L., Barnett R.E., Baxter M.D., Donenberg T., Ducaine W.L., Ernst M.E., Homer J., Judkins M., Lovick N.M., Powers J.M., Stanislaw C., Stark E., Stenner R.C., Matloff E.T. Adverse events in cancer genetic testing: the third case series. The Cancer Journal. 2014, 20(4): 246-53. [PubMed]

2012 Publications

  • Moreira L., Balaguer F., Lindor N., de la Chapelle A., Hampel H., Aaltonen L.A., Hopper J.L., Le Marchand L., Gallinger S., Newcomb P.A., Haile R., THibodeau S.N., Gunawardena S., Jenkins M.A., Buchanan D.D., Potter J.D., Baron J.A., Ahnen D.J., Moreno V., Andreu M., Ponz de Leon M., Rustgi A.K., Castells A.; Identification of Lynch syndrome among patients with colorectal cancer. Journal of the American Medical Association. 2012, 308(15): 1555-65. [PubMed]

2011 Publications

  • King C.E., Cuatrecasas M., Castells A., Sepulveda A.R., Lee J.S., Rustgi A.K. LIN28B promotes colon cancer progression and metastasis. Cancer Research. 2011, 71(12): 4260-8. [PubMed]

2010 Publications

  • Yang V.W., Lewis J., Wang T.C., Rustgi A.K. Colon cancer: an update and future directions. Gastroenterology. 2010, 138(6): 2027-8. [PubMed]
  • Brandt AC, Tschirgi ML, Ready KJ, Sun C, Darilek S, Hecht J, Arun BK, Lu KH. Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes. Familial Cancer. 2010 Sep;9(3);479-87. [PubMed]