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Medicine and Health Sciences Commons

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Oncology

Thomas Jefferson University

Department of Surgery Faculty Papers

2018

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Full-Text Articles in Medicine and Health Sciences

A Sub-Type Of Familial Pancreatic Cancer: Evidence And Implications Of Loss-Of-Function Polymorphisms In Indoleamine-2,3-Dioxygenase-2., Avinoam Nevler, Alexander J. Muller, Joseph A. Cozzitorto, Austin Goetz, Jordan M. Winter, Theresa P. Yeo, Harish Lavu, Charles Yeo, George C. Prendergast, Jonathan Brody Apr 2018

A Sub-Type Of Familial Pancreatic Cancer: Evidence And Implications Of Loss-Of-Function Polymorphisms In Indoleamine-2,3-Dioxygenase-2., Avinoam Nevler, Alexander J. Muller, Joseph A. Cozzitorto, Austin Goetz, Jordan M. Winter, Theresa P. Yeo, Harish Lavu, Charles Yeo, George C. Prendergast, Jonathan Brody

Department of Surgery Faculty Papers

BACKGROUND: Variation in an individual's genetic status can impact the development of pancreatic ductal adenocarcinoma; however, the majority of familial pancreatic cancers (FPC) cannot yet be attributed to a specific inherited mutation. We present data suggesting a correlation between loss-of-function single nucleotide polymorphisms (SNPs) in an immune regulator gene, indoleamine-2,3-dioxygenase-2 (IDO2), and an increased risk of FPC.

STUDY DESIGN: Germline DNA from patients who underwent resection for pancreatic ductal adenocarcinoma (n = 79) was sequenced for the IDO2 SNPs R248W and Y359Stop. Genotypes resulting in inactivation of IDO2 (Y325X homozygous, R248W homozygous) were labeled as homozygous, and the other genotypes …