Gastrointestinal Cancer Genetics Clinical Trials and Research

Clinical Trials and Research Studies

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, including:

Lynch syndrome/Polyposis

A Phase 1b, Multicenter, Randomized, Blinded, Placebo-controlled Study to Evaluate the Efficacy of Guselkumab in Subjects with Familial Adenomatous Polyposis (CNTO1959COR1001)

  • This is a Phase 1b, randomized, blinded, placebo-controlled, multicenter, proof-of-concept study to evaluate the preliminary clinical activity of guselkumab in subjects with FAP. The study is designed to determine if guselkumab has clinical activity in the colorectum and duodenum, by reducing the number of polyps over a period of 24 weeks. Once a subject is determined to be eligible for the study, the subject will be randomized to one of the 3 treatment arms.  https://clinicaltrials.gov/ct2/show/NCT03649971
  • PI: Bryson Katona, MD, PhD
  • Contact: Julie Starr (jstarr@pennmedicine.upenn.edu)

Characterization of the immune profile of individuals with Lynch syndrome

  • The goal of the study is to characterize the immune profile in peripheral blood of individuals with Lynch syndrome and also to characterize the immune response to an influenza vaccine in individuals with Lynch syndrome. Eligible patients include those have Lynch syndrome as documented by a 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.
  • PI: Bryson Katona, MD, PhD
  • Contact: Lakshmi Chilukuri (lpchil@pennmedicine.upenn.edu)

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 2 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 last vaccine to monitor the immune response. Information will be gathered from routine clinic visits for approximately 1 year to evaluate for disease progression.  https://clinicaltrials.gov/ct2/show/NCT03730948
  • PI: Kim Reiss Binder, MD
  • Contact: Emerging Medicine (PennCancerTrials@emergingmed.com, 858-216-0098)

Pancreatic Cancer

A prospective, multi-center investigational study of IMMray™ PanCan-d diagnostic platform for early detection of pancreatic ductal adenocarcinoma in high-risk populations (PANFAM-1 Study)

  • This is an international, multi-center study with the purpose of assessing the natural occurrence of pancreatic cancer in high risk groups and to test a pancreatic cancer screening test, called "IMMray," which is a new pancreatic cancer biomarker test that looks for signs in the blood that might indicate the presence of pancreatic cancer.  Participants will undergo blood collection every 6 months, and the results from the samples will be correlated with annual imaging of the pancreas either through MRI, CT scan, or endoscopic ultrasound. https://clinicaltrials.gov/ct2/show/NCT03693378
  • PI: Bryson Katona, MD, PhD
  • Contact: Alice Alderson (Alice.Alderson@pennmedicine.upenn.edu, 215-360-0905)

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 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.
  • PI: Bryson Katona, MD, PhD
  • Contact: Maureen DeMarshall (demarshm@mail.med.upenn.edu, 215-349-8546)

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.  https://clinicaltrials.gov/ct2/show/NCT02000089
  • PI: Bryson Katona, MD, PhD
  • Contact: Maureen DeMarshall (demarshm@mail.med.upenn.edu, 215-349-8546)

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.
  • PI: Bryson Katona, MD, PhD
  • Contact: bryson.katona@uphs.upenn.edu

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:

2019

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

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

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

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

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

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

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

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

Yang V.W., Lewis J., Wang T.C., Rustgi A.K. Colon cancer: an update and future directions. 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]