Low-frequency of RABL3 pathogenetic variants in hereditary and familial pancreatic cancer

Pancreatic carcinoma (PC) can be inherited as hereditary and familial pancreatic cancer (HPC and FPC). HPC is a genetically confirmed PC, accounting for 10 –15% of PC. FPC is diagnosed when three relatives have PC, or when two relatives are affected with one first degree relative (FDR): 5–10% of all PCs fit these criteria [1-4]. Autosomal dominant transmission of inheritance for HPC is identified in genes causing hereditary pancreatitis (PRSS1 gene ), hereditary breast and ovarian cancer (BRCA1 and BRCA2 genes), familial atypical multiple mole melanoma (FAMMM) with p16 gene (CDKN2a) germline mutation, Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM genes), Peutz–Jeghers polyposis (STK11 gene), ataxia teleangectasia (ATM gene), familial adenoma tous polyposis (APC gene), Li-Fraumeni syndrome (TP53 gene).

Source: Digestive and Liver Disease - December 19, 2020 Category: Gastroenterology Authors: Marta Puzzono, Stefano Crippa, Raffaella Alessia Zuppardo, Ettore Zapparoli, Massimo Falconi, Giulia Martina Cavestro Tags: Correspondence Source Type: research