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

World J Gastrointest Oncol. 2019 Feb 15;11(2):102-116. doi: 10.4251/wjgo.v11.i2.102.

Abstract

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.

Conclusion: Earlier referrals and increased awareness may be able to overcome the low rate of successful genetic appointments.

Keywords: BRCA; Genetic consultation; Genetic counselling; Germline; Pancreatic adenocarcinoma.