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Gastrointestinal Cancer Genetics Program

Clinical Trials

1. The Cancer of the Pancreas Screening-5 (CAPS5) Study
The goal of this study is to determine 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 and of a new cohort in which screening is begun at age > 55.  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], PRSS1/2, or CTRC).  Participants must also schedule an endoscopic ultrasound evaluation of the pancreas.

PI: Anil Rustgi, MD
Contact: Maureen DeMarshall 215-349-8546

2. Preliminary Evaluation of Screening for Pancreatic Cancer in patients with BRCA1/2 Mutations

This study is a prospective, observational, case-control study evaluating the utility of endoscopic ultrasound for the identification of preneoplastic and neoplastic pancreatic lesions in patients at high risk for pancreatic cancer, specifically those with BRCA1/2, PALB2, and ATM mutations.

PI: Anil Rustgi, MD
Contact: Maureen DeMarshall 215-349-8546

3. Preliminary Evaluation of Septin9 in Patients with Hereditary Colon Cancer Syndromes

This is an observational, case-control study evaluating the quantitative level of Septin9 in plasma pre- and post-colectomy in hereditary colorectal cancer syndrome patients including Familial Adenomatous Polyposis (FAP), Lynch syndrome (also known as HNPCC), MUTYH-associated Polyposis (MAP), and genetically related family members as controls and references.

PI: Anil Rustgi, MD
Contact: Maureen DeMarshall 215-349-8546

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University of Pennsylvania | Perelman School of Medicine