Prevalence and prognostic role of inherited germline mutations in cancer predisposing genes in unselected patients with pancreatic cancer

Annals of Oncology(2020)

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BackgroundData on germline cancer-predisposing mutations in European patients with pancreatic cancer is limited. Our aim was to evaluate the prevalence, the prognostic and predictive value of germline deleterious mutations in unselected patients with pancreatic cancer.MethodsPatients with histologically confirmed pancreatic adenocarcinoma (PDAC), treated at Hellenic Cooperative Oncology Group (HeCOG)-affiliated Departments, were included. No preselection criteria for the inclusion of patients were used. The presence of deleterious mutations was assessed using targeted in solution hybridization-based next-generation sequencing with the PreSENTIA pan-cancer panel, covering 62 cancer predisposing genes. Results were validated by an orthogonal method. Clinicopathologic and outcome data were retrieved from the patients’ medical records. The primary endpoint of the study was the prevalence of …
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