Identification of patients with pancreatic adenocarcinoma due to inheritable mutation:Challenges of daily clinical practice

摘要

BACKGROUND Identification of germ-line mutations in pancreatic ductal adenocarcinoma(PDAC) could impact on patient/family.AIM To assess the referral pathways for genetic consultations in PDAC.METHODS Electronic records of PDAC patients were reviewed retrospectively. Patients eligible for genetic consultation referral were identified following the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer(EUROPAC)criteria.RESULTS Four-hundred patients were eligible. Of 113 patients(28.3%) meeting EUROPAC criteria, 8.8% were referred for genetic opinion. Germ-line mutations were identified in 0.75% of the whole population.CONCLUSIONEarlier referrals and increased awareness may be able to overcome the low rate of successful genetic appointments.