Familial Pancreatic Cancer

• Published in: Seminars in oncology Vol. 43; no. 5; pp. 548 - 553
• Main Author: Petersen, Gloria M., Ph.D
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.10.2016
• Subjects: BRCA2; CDKN2A; Cyclin-Dependent Kinase Inhibitor p16; Cyclin-Dependent Kinase Inhibitor p18 - genetics; Fanconi Anemia Complementation Group C Protein - genetics; Fanconi Anemia Complementation Group N Protein; Genes, BRCA2; Genetic Predisposition to Disease; Genetic testing; Hematology, Oncology and Palliative Medicine; Humans; Nuclear Proteins - genetics; Pancreatic cancer; Pancreatic Neoplasms; Pancreatic Neoplasms - etiology; Pancreatic Neoplasms - genetics; Tumor Suppressor Proteins - genetics; Genetic testing; BRCA2; CDKN2A; Pancreatic cancer
• ISSN: 0093-7754; 1532-8708
• DOI: 10.1053/j.seminoncol.2016.09.002

Familial pancreatic cancer (FPC) includes those kindreds that contain at least two first degree relatives with pancreatic ductal adenocarcinoma. At least twelve known hereditary syndromes or genes are associated with increased risk of developing pancreatic cancer, the foremost being BRCA2 and CDKN2A . Research into the identification of mutations in known cancer predisposition genes and through next generation sequencing has revealed extensive heterogeneity. The development of genetic panel testing has enabled genetic risk assessment and predisposition testing to be routinely offered. Precision oncology has opened the possibility of “incidental” germline mutations that may have implications for family members. However, in both cases, evidence-based recommendations for managing patients and at-risk family members in light of genetic status remain emergent, with current practice based upon expert opinion.