Familial pancreatic cancer

Semin Oncol. 2016 Oct;43(5):548-553. doi: 10.1053/j.seminoncol.2016.09.002. Epub 2016 Sep 22.

Abstract

Familial pancreatic cancer (FPC) includes those kindreds that contain at least two first-degree relatives with pancreatic ductal adenocarcinoma. At least 12 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 on expert opinion.

Keywords: BRCA2; CDKN2A; Genetic testing; Pancreatic cancer.

Publication types

  • Review

MeSH terms

  • 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
  • Humans
  • Nuclear Proteins / genetics
  • Pancreatic Neoplasms / etiology
  • Pancreatic Neoplasms / genetics*
  • Tumor Suppressor Proteins / genetics

Substances

  • CDKN2A protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • Cyclin-Dependent Kinase Inhibitor p18
  • FANCC protein, human
  • Fanconi Anemia Complementation Group C Protein
  • Fanconi Anemia Complementation Group N Protein
  • Nuclear Proteins
  • PALB2 protein, human
  • Tumor Suppressor Proteins