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.
Original language | English (US) |
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Article number | 108 |
Journal | Genes |
Volume | 11 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2020 |
Keywords
- ATM
- Genetics
- Pancreatic cancer
- Pancreatic ductal adenocarcinoma
- Predisposition
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)