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Germline Variants in Pancreatic Cancer Families: Systematic Review and Emerging Concepts: 30 by Zan, Wei; Shelton, Celeste; Greer, Phil; Brand, Randall; Whitcomb, David C is a Medicine article available to read on EtoBox.

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Introduction: Complex disorders such as pancreatic cancer arise from multiple etiologies and risk factors that converge to generate a well-defined, acquired cancer syndrome with characteristic pathologic features. Germline mutations are believed to contribute to the risk of pancreatic cancer, but no single factor is recognized as causative. Instead, genetic analysis from association studies and candidate gene studies reveals many germline variants that may contribute to different steps in this complex oncogenic process. Identification of pancreatic cancer-associated pathogenic variants may inform both biomarker analysis and direct precision management. Methods: We conducted a systematic review of the literature on germline pancreatic cancer risk variants and compiled variant tables with inferred pathogenicity levels. The genes and variants were assessed for functional effects and associated biological systems and pathways. Results: Twenty-one previously identified pancreatic cancer risk genes formed the basis of a systematic review of the English literature. We identified 296 germline variants among 65 informative publications. Twelve genes contained 55 variants predicted to be pat

Who reads Germline Variants in Pancreatic Cancer Families: Systematic Review and Emerging Concepts: 30?

Author

Zan, Wei; Shelton, Celeste; Greer, Phil; Brand, Randall; Whitcomb, David C

Publisher

Nature Publishing Group; American College of Gastroenterology; Springer Verlag; Ovid Technologies (Wolters Kluwer Health); Springer Science and Business Media LLC; Wiley (ISSN 0002-9270)

Published

2017

Language

EN

Field

Medicine (Health Sciences)