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Genomic copy number predicts oesophageal cancer years before transformation

Authors :
Dan J. Woodcock
Rachel de la Rue
Wladyslaw Januszewicz
Eleanor Gregson
David C. Wedge
Matthew D. Eldridge
Moritz Gerstung
Sujath Abbas
Adrienn Blasko
Ahmad Miremadi
Sarah Killcoyne
Rebecca C. Fitzgerald
Aikaterini Varanou Jenkins
Source :
Killcoyne, S, Gregson, E, Wedge, D C, Woodcock, D J, Eldridge, M, Rue, R D L, Miremadi, A, Abbas, S, Blasko, A, Januszewicz, W, Jenkins, A V, Gerstung, M & Fitzgerald, R C 2020, ' Genomic copy number predicts oesophageal cancer years before transformation ', bioRxiv . https://doi.org/10.1101/2020.02.27.967612
Publication Year :
2020
Publisher :
Cold Spring Harbor Laboratory, 2020.

Abstract

SummaryCancer arises through a process of somatic evolution and recent studies have shown that aneuploidies and driver gene mutations precede cancer diagnosis by several years to decades1–4 Here, we address the question whether such genomic signals can be used for early detection and pre-emptive cancer treatment. To this end we study Barrett’s oesophagus, a genomic copy number driven neoplastic precursor lesion to oesophageal adenocarcinoma5. We use shallow whole genome sequencing of 777 biopsies sampled from 88 patients in surveillance for Barrett’s oesophagus over a period of up to 15 years. These data show that genomic signals exist that distinguish progressive from stable disease with an AUC of 0.87 and a sensitivity of 50% even ten years prior to histopathological disease transformation. These finding are validated on two independent cohorts of 75 and 248 patients. Compared against current patient management guidelines genomic risk classification enables earlier treatment for high risk patients as well as reduction of unnecessary treatment and monitoring for patients who are unlikely to develop cancer.

Details

Language :
English
Database :
OpenAIRE
Journal :
Killcoyne, S, Gregson, E, Wedge, D C, Woodcock, D J, Eldridge, M, Rue, R D L, Miremadi, A, Abbas, S, Blasko, A, Januszewicz, W, Jenkins, A V, Gerstung, M & Fitzgerald, R C 2020, ' Genomic copy number predicts oesophageal cancer years before transformation ', bioRxiv . https://doi.org/10.1101/2020.02.27.967612
Accession number :
edsair.doi.dedup.....ac5c261280462c7f018fe66effae0b76
Full Text :
https://doi.org/10.1101/2020.02.27.967612