[Hereditary and familial forms of pancreatic adenocarcinoma: Genetic determinism, patients eligible for systematic screening, screening methods and results]

Bull Cancer. 2024 Feb;111(2):199-212. doi: 10.1016/j.bulcan.2023.11.002. Epub 2023 Dec 19.
[Article in French]


Systematic screening for pancreatic cancer in high risk individuals is justified by the poor prognosis of the majority of cases diagnosed at a symptomatic stage that are mostly advanced and unresectable Individual risk assessment is based on both genetic data and family history. The screening of a panel of susceptibiility genes should be offered to any affected individual when a genetic predisposition is suspected. An international consortium has proposed a definition of the at risk population, candidate for screening, and there is a consensus on the target lesions of this screening: early adenocarcinoma and benign lesions with a high potential for malignant transformation: Intraductal Papillary Mucinous Neopasm (IPMN) and Pancreatic Intraepithelial Neoplasia (PanIN) with high-grade dysplasia. Its modalities currently consist of an annual pancreatic MRI and/or endoscopic ultrasound (EUS), associated with screening for diabetes mellitus. The main limitation of screening, the effectiveness of which has not yet been demonstrated, is its lack of sensitivity, which results in a non-negligible rate of interval cancers and sometimes advanced diagnoses. Insufficient specificity is also imperfect, in particular with regard to benign lesions with a low potential for degeneration, and can lead to the proposal of unjustified surgeries. This situation makes the future integration of new imaging techniques and promising new biological approaches that are being explored highly desirable.

Keywords: Cancer du pancréas; Dépistage; Formes héréditaires; Genetics; Génétique; Hereditary syndromes; High risk; Pancreatic adenocarcinoma; Risque élevé; Screening.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adenocarcinoma* / diagnostic imaging
  • Adenocarcinoma* / genetics
  • Carcinoma, Pancreatic Ductal* / diagnostic imaging
  • Carcinoma, Pancreatic Ductal* / genetics
  • Endosonography
  • Genetic Determinism
  • Humans
  • Pancreas / diagnostic imaging
  • Pancreas / pathology
  • Pancreatic Neoplasms* / diagnostic imaging
  • Pancreatic Neoplasms* / genetics