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

doi:10.1053/j.gastro.2018.09.038

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

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English
Pages (from-to)	43-45
Journal	Gastroenterology
Volume	156
Issue number	1
Early online date	19 Sept 2018
DOIs	https://doi.org/10.1053/j.gastro.2018.09.038
Publication status	Published - 01 Jan 2019

Keywords

Early Detection of Cancer
oesophageal cancer
Genes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Information on Genetic Variants Does Not Increase Identification of Individuals at Risk of Esophageal Adenocarcinoma Compared to Clinical Risk Factors
Copyright 2018 Elsevier. This manuscript is distributed under a Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits distribution and reproduction for non-commercial purposes, provided the author and source are cited.
Accepted author manuscript, 165 KBLicence: CC BY-NC-ND

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Kunzmann, A., Cañadas-Garre, M., Thrift, A., McMenamin, U., Johnston, B., Cardwell, C., Anderson, L., Spence, A., Lagergren, J., Xie, S.-H., Smyth, L., McKnight, A., & Coleman, H. (2019). Information on Genetic Variants Does Not Increase Identification of Individuals at Risk of Esophageal Adenocarcinoma Compared to Clinical Risk Factors. Gastroenterology, 156(1), 43-45. https://doi.org/10.1053/j.gastro.2018.09.038

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

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.",

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Kunzmann, A, Cañadas-Garre, M, Thrift, A, McMenamin, U, Johnston, B, Cardwell, C , Anderson, L , Spence, A, Lagergren, J, Xie, S-H, Smyth, L , McKnight, A & Coleman, H 2019, 'Information on Genetic Variants Does Not Increase Identification of Individuals at Risk of Esophageal Adenocarcinoma Compared to Clinical Risk Factors', Gastroenterology, vol. 156, no. 1, pp. 43-45. https://doi.org/10.1053/j.gastro.2018.09.038

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AU - Kunzmann, Andrew

AU - Cañadas-Garre, Marisa

AU - Thrift, Aaron

AU - McMenamin, Una

AU - Johnston, Brian

AU - Cardwell, Christopher

AU - Anderson, Lesley

AU - Spence, Andrew

AU - Lagergren, Jesper

AU - Xie, Shao-Hua

AU - Smyth, Laura

AU - McKnight, Amy

AU - Coleman, Helen

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AB - 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.

KW - Early Detection of Cancer

KW - oesophageal cancer

KW - Genes

U2 - 10.1053/j.gastro.2018.09.038

DO - 10.1053/j.gastro.2018.09.038

M3 - Article

SN - 0016-5085

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JO - Gastroenterology

JF - Gastroenterology

IS - 1

ER -

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

Abstract

Keywords

UN SDGs

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