| Title: | Information on Genetic Variants Does Not Increase Identification of Individuals at Risk of Esophageal Adenocarcinoma Compared to Clinical Risk Factors |
| Journal: | Gastroenterology |
| Published: | 19 Sep 2018 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/30243622/ |
| DOI: | https://doi.org/10.1053/j.gastro.2018.09.038 |
| URL: | https://kclpure.kcl.ac.uk/ws/files/101368586/Information_on_Genetic_Variants_KUNZMANN_Firstonline19September2018_GREEN_AAM_CC_BY_NC_ND_.pdf |
| Citations: | 16 (6 in last 2 years) as of 8 Aug 2024 |
Publication 8568
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Abstract
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.</p>
22 Keywords
- Adenocarcinoma
- Aged
- Biomarkers, Tumor
- DNA Mutational Analysis
- Decision Support Techniques
- Early Detection of Cancer
- Esophageal Neoplasms
- Female
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Germ-Line Mutation
- Humans
- Male
- Middle Aged
- Phenotype
- Polymorphism, Single Nucleotide
- Predictive Value of Tests
- Prognosis
- Risk Assessment
- Risk Factors
- Time Factors
- United Kingdom
13 Authors
- Andrew T Kunzmann
- Marisa Cañadas Garre
- Aaron P Thrift
- Úna C McMenamin
- Brian T Johnston
- Chris R Cardwell
- Lesley A Anderson
- Andrew D Spence
- Jesper Lagergren
- Shao-Hua Xie
- Laura J Smyth
- Amy Jayne McKnight
- Helen G Coleman
1 Application
| Application ID | Title |
|---|---|
| 34374 | Risk factors and biomarkers for the development and early diagnosis of upper gastro-intestinal cancers |
Enabling scientific discoveries that improve human health