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ATM Serine/Threonine Kinase and its Role in Pancreatic Risk

Neha Nanda, Nicholas J. Roberts

2020Genes29 citationsDOIOpen Access PDF

Abstract

Next-generation sequencing has led to the recent discovery of several novel pancreatic cancer susceptibility genes. These genes include ataxia telangiectasia mutated (ATM), a serine/threonine kinase that is an integral component of DNA repair. Pathogenic germline ATM variants are frequently identified in patients with pancreatic ductal adenocarcinoma (PDAC) with and without a family history of the disease. Loss of ATM is also a frequent somatic event in the development of PDAC. These discoveries have advanced our understanding of the genetic basis of pancreatic cancer risk and will impact patient care through appropriate patient–risk stratification; personalized screening and early detection efforts; and, for some, targeted therapy.

Topics & Concepts

Ataxia-telangiectasiaPancreatic cancerAKT2GermlineSomatic cellCancer researchSTK11KinaseMedicineGenePancreatic ductal adenocarcinomaBioinformaticsBiologyGeneticsCancerAKT1PI3K/AKT/mTOR pathwaySignal transductionDNADNA damageMutationKRASPancreatic and Hepatic Oncology ResearchCancer Genomics and DiagnosticsRenal and related cancers
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