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Prevalence of germline mutations associated with cancer risk in patients with intraductal papillary mucinous neoplasms

Gastroenterology Apr 01, 2019

Skaro M, et al. - In patients with histologically confirmed intraductal papillary mucinous neoplasm (IPMN), researchers evaluated the prevalence of germline mutations correlated with cancer risk. From 1997 to 2017, they obtained samples of nontumor tissue from 315 patients with surgically resected IPMNs and sequenced 94 genes with cancer-related variants. Mutations associated with increased cancer risk have been identified and compared with the Exome Aggregation Consortium individuals. According to results, 23 patients with a cancer-related germline mutation were identified. Nine patients had a germline mutation related to pancreatic cancer susceptibility. Investigators found that nearly 3% to carry mutations linked to pancreatic cancer risk in sequence analyses of 315 patients with surgically resected IPMNs. More patients with pancreatic cancer-related IPMNs and germline mutations had concurrent invasive pancreatic carcinoma vs patients without these mutations with IPMNs. Genetic analysis of IPMN patients could identify those at the highest risk of cancer.
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