Information on Genetic Variants Does Not Increase Identification of Individuals at Risk of Esophageal Adenocarcinoma Compared to Clinical Risk Factors

Andrew Kunzmann, Marisa Cañadas-Garre, Aaron Thrift, Una McMenamin, Brian Johnston, Christopher Cardwell, Lesley Anderson, Andrew Spence, Jesper Lagergren, Shao-Hua Xie, Laura Smyth, Amy McKnight, Helen Coleman

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We previously developed a tool that identified individuals who later developed esophageal adenocarcinoma (based on age, sex, body mass index, smoking status, and prior esophageal conditions) with an area under the curve of 0.80. In this study, we collected data from 329,463 individuals in the UK Biobank cohort who were tested for genetic susceptibility to esophageal adenocarcinoma (a polygenic risk score based on 18 recognized genetic variants). We found that after inclusion of this genetic information, the area under the curve for identification of individuals who developed esophageal adenocarcinoma remained at 0.80. Testing for genetic variants associated with esophageal adenocarcinoma therefore seems unlikely to improve identification of individuals at risk of esophageal adenocarcinoma.
Original languageEnglish
Pages (from-to)43-45
Issue number1
Early online date19 Sep 2018
Publication statusPublished - 01 Jan 2019



  • Early Detection of Cancer
  • oesophageal cancer
  • Genes

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