Our overall hypothesis is that there are identifiable genetic predispositions to the development of pancreatic cancer. Our overall translational goals are to develop a scientific evidence base to inform genetic counseling and risk assessment of familial pancreatic cancer patients, to identify genetic alterations that are specifically targetable therapeutically, and to identify those high risk relatives who would benefit most from future chemoprevention trials and efforts to screen for early, and therefore potentially curable, pancreatic neoplasia. The goals of this project are to characterize further the phenotype of familial pancreatic cancer, to identify pancreatic cancer susceptibility genes, and to use these discoveries to improve clinical risk assessment for patients and their families. To achieve these goals we will utilize the unique resource of the National Familial Pancreas Tumor Registry, with over 3,900 pancreatic cancer families to conduct detailed analysis of the pathology of both familial and sporadic pancreatic cancer as well as penetrance analysis for established pancreatic cancer genes and environmental risk factors that allow for gene by environment interaction. In addition, candidate genes identified through our ongoing whole genome and exome sequencing individuals from over 100 familial pancreatic cancer families will be evaluated to identify additional pancreatic cancer susceptibility genes. We anticipate that our project will not only identify new pancreatic cancer genes but also quantify the risk of pancreatic cancer associated with these genes translating these findings into the clinical setting.

Public Health Relevance

The goal of this project identify new familial pancreatic cancer genes, quantify the risk of pancreatic cancer associated with these new genes along with established genetic and non-genetic risk factors, and to use these findings to improve risk modeling for pancreatic cancer.

National Institute of Health (NIH)
National Cancer Institute (NCI)
Specialized Center (P50)
Project #
Application #
Study Section
Special Emphasis Panel (ZCA1-RPRB-M)
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Johns Hopkins University
United States
Zip Code
Chung, Liam; Thiele Orberg, Erik; Geis, Abby L et al. (2018) Bacteroides fragilis Toxin Coordinates a Pro-carcinogenic Inflammatory Cascade via Targeting of Colonic Epithelial Cells. Cell Host Microbe 23:203-214.e5
Nakamura, Hideki; Lee, Albert A; Afshar, Ali Sobhi et al. (2018) Intracellular production of hydrogels and synthetic RNA granules by multivalent molecular interactions. Nat Mater 17:79-89
Al Efishat, Mohammad A; Attiyeh, Marc A; Eaton, Anne A et al. (2018) Multi-institutional Validation Study of Pancreatic Cyst Fluid Protein Analysis for Prediction of High-risk Intraductal Papillary Mucinous Neoplasms of the Pancreas. Ann Surg 268:340-347
Cruz-Correa, Marcia; Hylind, Linda M; Marrero, Jessica Hernandez et al. (2018) Efficacy and Safety of Curcumin in Treatment of Intestinal Adenomas in Patients With Familial Adenomatous Polyposis. Gastroenterology 155:668-673
Christmas, Brian J; Rafie, Christine I; Hopkins, Alexander C et al. (2018) Entinostat Converts Immune-Resistant Breast and Pancreatic Cancers into Checkpoint-Responsive Tumors by Reprogramming Tumor-Infiltrating MDSCs. Cancer Immunol Res 6:1561-1577
Blair, Alex B; Murphy, Adrian (2018) Immunotherapy as a treatment for biliary tract cancers: A review of approaches with an eye to the future. Curr Probl Cancer 42:49-58
Raman, Aadhithya; Lennon, Anne Marie (2018) Cyst Fluid Biomarkers - Diagnosis and Prediction of Malignancy for Cystic Lesions of the Pancreas. Visc Med 34:178-181
Noë, Michaël; Pea, Antonio; Luchini, Claudio et al. (2018) Whole-exome sequencing of duodenal neuroendocrine tumors in patients with neurofibromatosis type 1. Mod Pathol 31:1532-1538
Cohen, Joshua D; Li, Lu; Wang, Yuxuan et al. (2018) Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science 359:926-930
Shumar, Stephanie A; Kerr, Evan W; Geldenhuys, Werner J et al. (2018) Nudt19 is a renal CoA diphosphohydrolase with biochemical and regulatory properties that are distinct from the hepatic Nudt7 isoform. J Biol Chem 293:4134-4148

Showing the most recent 10 out of 883 publications