Familial Pancreatic Cancer Research: Bridging Gaps in Basic Research and Clinical Application

Biomolecules. 2024 Oct 30;14(11):1381. doi: 10.3390/biom14111381.

Abstract

Familial pancreatic cancer (FPC) represents a significant yet underexplored area in pancreatic cancer research. Basic research efforts are notably limited, and when present, they are predominantly centered on the BRCA1 and BRCA2 mutations due to the scarcity of other genetic variants associated with FPC, leading to a limited understanding of the broader genetic landscape of FPC. This review examines the current state of FPC research, focusing on the molecular mechanisms driving pancreatic ductal adenocarcinoma (PDAC) progression. It highlights the role of homologous recombination (HR) and its therapeutic exploitation via synthetic lethality with PARP inhibitors in BRCA1/2-deficient tumors. The review discusses various pre-clinical models of FPC, including conventional two-dimensional (2D) cell lines, patient-derived organoids (PDOs), patient-derived xenografts (PDXs), and genetically engineered mouse models (GEMMs), as well as new advancements in FPC research.

Keywords: BRCA1; BRCA2; PARP inhibitor; familial pancreatic cancer; homologous recombination; pancreatic ductal adenocarcinoma.

Publication types

  • Review

MeSH terms

  • Animals
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Carcinoma
  • Carcinoma, Pancreatic Ductal* / drug therapy
  • Carcinoma, Pancreatic Ductal* / genetics
  • Carcinoma, Pancreatic Ductal* / metabolism
  • Carcinoma, Pancreatic Ductal* / pathology
  • Humans
  • Mice
  • Mutation
  • Pancreatic Neoplasms* / drug therapy
  • Pancreatic Neoplasms* / genetics
  • Pancreatic Neoplasms* / metabolism
  • Pancreatic Neoplasms* / pathology
  • Poly(ADP-ribose) Polymerase Inhibitors / pharmacology
  • Poly(ADP-ribose) Polymerase Inhibitors / therapeutic use

Substances

  • BRCA2 Protein
  • BRCA1 Protein
  • Poly(ADP-ribose) Polymerase Inhibitors
  • BRCA2 protein, human
  • BRCA1 protein, human

Supplementary concepts

  • Pancreatic carcinoma, familial

Grants and funding

C.-I.H. is supported by the National Cancer Institute (NCI) R37CA249007, and the University of California (UC) Davis Comprehensive Cancer Center Pilot Grant (NCI P30CA093373). S.A. is supported by the Anandamahidol Foundation. F.A. is supported by the UC Davis Provost Undergraduate Fellowship (PUF). P.L. is supported by the Charles and Nanci Cooper Undergraduate Research.