Hereditary Syndromes and Pancreatic Cancer: Textbook of Pancreatic Cancer

Up to 10% of patients with pancreatic cancer have a positive family history with affected close relatives. In some families, pancreatic cancer occurs as part of specific tumour predisposition syndromes. To date, our knowledge on genetic predisposition factors for pancreatic carcinoma is improving. Genetic testing in this context is in full expansion since some genetic risk factors may function as therapeutic targets. In this review, we discuss known genetic causes of increased risk for pancreatic ductal adenocarcinoma (PDAC). Conditions covered include Peutz Jeghers syndrome (STK11), familial atypical multiple mole melanoma and pancreatic cancer syndrome (CDKN2A), hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2), PALB2 and ATM gene mutations, Lynch syndrome (MLH1/MSH2/MSH6/PMS2), and hereditary pancreatitis (PRSS1/CFTR/CRTC/SPINK1). We also present recent recommendations on pancreatic cancer surveillance in high-risk individuals, based on expert opinions. Further research is warranted to collect evidence on the benefit of these recommendations.