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Gene mutations linked to pancreatic cancer development
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Inherited genetic mutations may increase the risk for pancreatic cancer in patients with specific pancreatic lesions, according to data published in Gastroenterology.
Nicholas Roberts, PhD, of the department of pathology at The Johns Hopkins University School of Medicine, and colleagues hope that their findings will help guide high-risk patients to early interventions and treatment for pancreatic cancer.
“To our knowledge, no one had looked at inherited mutations in this at-risk patient population before,” he said in a press release. “Though limited in scope, this study was a necessary first step in evaluating the role of inherited mutations in the development of pancreatic cancer in patients with a specific type of precursor lesion.”
Researchers wrote that many patients with pancreatic adenocarcinoma carry germline mutation associated with increased cancer risk. However, it is unclear if patients with precursor lesions known as intraductal papillary mucinous neoplasms (IPMNs) also have the same mutations.
Investigators analyzed data from 315 patients with surgically resection IPMNs from 1997 to 2017 to assess the prevalence of mutations associated with cancer risk. They sequenced 94 genes with variants associated with cancer risk and compared patients with IPMNs with individuals from the Exome Aggregation Consortium.
Roberts and colleagues identified 23 patients with a germline mutation associated with cancer risk (7.3%; 95% CI, 4.9–10.8) and nine with a mutation linked to pancreatic cancer susceptibility (2.9%; 95% CI, 1.3–5.4). More patients with IPMNs carried mutations in ATM, PTCH1 and SUFU compared with controls (all P < .0001). ATM is a known pancreatic susceptibility gene, while PTCH1 and SUFU are thought to be part of proteins believed to be involved. Patients with IPMNs and germline mutations associated with pancreatic cancer were also more likely to have concurrent pancreatic carcinoma compared with patients with IPMNs who did not have the mutations (P < .032).
Roberts and colleagues believe their findings demonstrate that germline testing of patients with IPMN could have an important impact on pancreatic cancer management.
“Our study only included patients with IPMNs advanced enough to need surgery, so we can't draw broad conclusions,” Roberts said in the release. “The evidence warrants a more comprehensive, prospective study of inherited mutations in all IPMN patients to further elucidate their role in the development of pancreatic cancer.” – by Alex Young
Disclosures: The authors report no relevant financial disclosures.
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