Prevalence of Germline Mutations Associated with Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms
| Autor: | Christian Gauthier, Zhengdong Jiang, Ammar A. Javed, Miaozhen Qiu, Alison P. Klein, Jin He, Matthäus Felsenstein, Laura D. Wood, Koji Shindo, Christopher L. Wolfgang, Ralph H. Hruban, Nicholas J. Roberts, Michael Goggins, Michael Skaro, Ross Beckman, Jun Yu, Neha Nanda, Elizabeth D. Thompson, Danielle Hutchings |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Oncology Adult Male medicine.medical_specialty endocrine system diseases Pancreatic Intraductal Neoplasms Ataxia Telangiectasia Mutated Proteins Article Neoplasms Multiple Primary 03 medical and health sciences 0302 clinical medicine Germline mutation Risk Factors Pancreatic cancer Internal medicine medicine Humans Genetic Predisposition to Disease Exome Germ-Line Mutation Aged Retrospective Studies Aged 80 and over Hepatology Intraductal papillary mucinous neoplasm business.industry Gastroenterology Cancer Middle Aged medicine.disease Minor allele frequency Pancreatic Neoplasms Patched-1 Receptor Repressor Proteins 030104 developmental biology medicine.anatomical_structure Case-Control Studies Adenocarcinoma 030211 gastroenterology & hepatology Female Neoplasm Grading Pancreas business Carcinoma Pancreatic Ductal |
| Zdroj: | Gastroenterology |
| Popis: | BACKGROUND & AIMS: Many patients with pancreatic adenocarcinoma (PDAC) carry germline mutations associated with increased risk of cancer. It is not clear whether patients with intraductal papillary mucinous neoplasms (IPMNs), which are precursors to some pancreatic cancers, also carry these mutations. We assessed the prevalence of germline mutations associated with cancer risk in patients with histologically confirmed IPMN. METHODS: We obtained non-tumor tissue from 315 patients with surgically resected IPMNs, from 1997 through 2017, and sequenced 94 genes with variants associated with cancer risk. Mutations associated with increased risk of cancer were identified and compared to individuals from the Exome Aggregation Consortium. RESULTS: We identified 23 patients with a germline mutation associated with cancer risk (7.3%; 95% CI, 4.9%–10.8%). Nine patients had a germline mutation associated with pancreatic cancer susceptibility (2.9% 95% CI, 1.4%–5.4%). More patients with IPMNs carried germline mutations in ATM (P |
| Databáze: | OpenAIRE |
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