Establishment of an international database for genetic variants in esophageal cancer

Ann N Y Acad Sci. 2016 Oct;1381(1):45-49. doi: 10.1111/nyas.13152. Epub 2016 Jul 21.


The establishment of a database has been suggested in order to collect, organize, and distribute genetic information about esophageal cancer. The World Organization for Specialized Studies on Diseases of the Esophagus and the Human Variome Project will be in charge of a central database of information about esophageal cancer-related variations from publications, databases, and laboratories; in addition to genetic details, clinical parameters will also be included. The aim will be to get all the central players in research, clinical, and commercial laboratories to contribute. The database will follow established recommendations and guidelines. The database will require a team of dedicated curators with different backgrounds. Numerous layers of systematics will be applied to facilitate computational analyses. The data items will be extensively integrated with other information sources. The database will be distributed as open access to ensure exchange of the data with other databases. Variations will be reported in relation to reference sequences on three levels--DNA, RNA, and protein-whenever applicable. In the first phase, the database will concentrate on genetic variations including both somatic and germline variations for susceptibility genes. Additional types of information can be integrated at a later stage.

Keywords: OESO; data integration; disease-causing variations; esophageal cancer; mutation; mutation database; the Human Variome Project; variation database.

Publication types

  • Review

MeSH terms

  • Databases, Genetic*
  • Esophageal Neoplasms / diagnosis
  • Esophageal Neoplasms / epidemiology
  • Esophageal Neoplasms / genetics*
  • Genetic Variation / genetics*
  • Humans
  • Internationality*