Familial pancreatic cancer: challenging diagnostic approach and therapeutic management

Familial predisposition characterizes up to 10% of the patients with pancreatic cancer (PC). Although many syndromes have been associated with an increased risk for PC, familial pancreatic cancer (FPC) accounts for the majority of hereditary cases. FPC is defined by families with at least a pair of first-degree relatives (FDRs) who have been diagnosed with PC and do not fulfill the criteria of other inherited tumor syndromes.

Genetic counseling is of great importance to estimate the prevalence and recommend further molecular testing. Regarding the screening program for individuals with increased risk for PC, a consortium summit stated that candidates for screening are FDRs of patients with PC from a familial kindred with at least two affected FDRs, patients with Peutz-Jeghers syndrome and p16, BRCA2, and hereditary nonpolyposis colorectal cancer (HNPCC) mutation carriers. It was also agreed that initial screening should include endoscopic ultrasonography (EUS) and/or magnetic resonance imaging (MRI)/magnetic resonance cholangiopancreatography (MRCP) instead of computed tomography (CT) or endoscopic retrograde cholangiopancreatography (ERCP).

However, the optimal age of initial screening remains undefined. Furthermore, a multidisciplinary assessment is required to determine whether surgical interventions should be performed at high-volume specialty centers. The aim of this study is to collect all the recent information considering the genetic basis, screening protocols, and treatment of FPC in order to provide an update on the current contemporary concepts of therapeutic management of the disease.