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Familial Pancreatic Cancer: Current Perspectives

Authors Llach J, Carballal S, Moreira L

Received 18 July 2019

Accepted for publication 15 January 2020

Published 31 January 2020 Volume 2020:12 Pages 743—758


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Antonella D'Anneo

Joan Llach, Sabela Carballal, Leticia Moreira

Departmento de Gastroenterología, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d’ Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universidad de Barcelona, Barcelona, Spain

Correspondence: Leticia Moreira Villarroel 170, Barcelona 08036, Spain
Tel +34 932275400
Fax +34 932279381

Abstract: Pancreatic cancer (PC) is a highly lethal disease, mostly incurable when detected. Thus, despite advances in PC treatments, only around 7% of patients survive 5-years after diagnosis. This morbid outcome is secondary to multifactorial reasons, such as late-stage diagnosis, rapid progression and minimal response to chemotherapy. Based on these factors, it is of special relevance to identify PC high-risk individuals in order to establish preventive and early detection measures. Although most PC are sporadic, approximately 10% cases have a familial basis. No main causative gene of PC has been identified but several known germline pathogenic mutations are related with an increased risk of this tumor. These inherited cancer syndromes represent 3% of all PC. On the other hand, in 7% of cases of PC, there is a strong family history without a causative germline mutation, a situation known as familial pancreatic cancer (FPC). In recent years, there is increasing evidence supporting the benefit of genetic germline analysis in PC patients, and periodic pancreatic screening in PC high-risk patients (mainly those with a lifetime risk greater than 5%), although there is no general agreement in the group of patients and individuals to study and screen. In the present review, we expose an update in the field of hereditary and FPC, with the aim of describing the current strategies and implications in genetic counseling, surveillance and therapeutic interventions.

Keywords: pancreatic cancer, hereditary, familial, mutation, screening, personalized medicine

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