Cited by 149Esophageal Cancer Research and TreatmentCancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

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Genomic copy number predicts esophageal cancer years before transformation

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Killcoyne, Sarah, Gregson, Eleanor, Wedge, David C., Woodcock, Dan J., Eldridge, Matthew D., de la Rue, Rachel, Miremadi, Ahmad, Abbas, Sujath, Blasko, Adrienn, Kosmidou, Cassandra, Januszewicz, Wladyslaw, Jenkins, Aikaterini Varanou, Gerstung, Moritz, Fitzgerald, Rebecca C.·2020·Nature Medicine

DOI 10.1038/s41591-020-1033-yPMC PMC7116403

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Abstract

Recent studies show that aneuploidy and driver gene mutations precede cancer diagnosis by many years 1-4. We assess whether these genomic signals can be used for early detection and pre-emptive cancer treatment using the neoplastic precursor lesion Barrett's esophagus as an exemplar 5. Shallow whole-genome sequencing of 777 biopsies, sampled from 88 patients in Barrett's esophagus surveillance over a period of up to 15 years, shows that genomic signals can distinguish progressive from stable disease even 10 years before histopathological transformation. These findings are validated on two independent cohorts of 76 and 248 patients. These methods are low-cost and applicable to standard clinical biopsy samples. Compared with current management guidelines based on histopathology and clinical presentation, genomic 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.

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Authors: Killcoyne, S., Gregson, E., Wedge, D. C., Woodcock, D. J., Eldridge, M. D., de la Rue, R., Miremadi, A., Abbas, S., Blasko, A., Kosmidou, C., Januszewicz, W., Jenkins, A. V., Gerstung, M., & Fitzgerald, R. C.
Affiliations: European Bioinformatics Institute (GB)
University of Cambridge (GB)
University of Manchester (GB)
University of Oxford (GB)
Cancer Research UK (GB)
Cambridge University Hospitals NHS Foundation Trust (GB)
Corresponding author: Gerstung, Moritz
Fitzgerald, Rebecca C.
ORCID: Killcoyne, Sarah
Gregson, Eleanor
Wedge, David C.
Woodcock, Dan J.
Eldridge, Matthew D.
Abbas, Sujath
Kosmidou, Cassandra
Januszewicz, Wladyslaw
Gerstung, Moritz
Fitzgerald, Rebecca C.
Venue: Nature Medicine
Publisher: Springer Science and Business Media LLC
Published: 2020-09-07
Volume: 26
Issue: 11
Pages: 1726-1732
ISSN: 1078-8956 (ISSN-L)
1546-170X
DOI: 10.1038/s41591-020-1033-y
PMC: PMC7116403
OpenAlex: W3083497411
Cited by: 149
References: 52
Citations by year: 2026: 16 · 2025: 26 · 2024: 24 · 2023: 27 · 2022: 20 · 2021: 32 · 2020: 3
FWCI: 18.73
Type: journal article
Language: en
Open access: green
doi.org
Licence: cc-by-nc-nd
www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Medicine (publishedVersion)
bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
PubMed (publishedVersion)
Research Explorer (The University of Manchester) (publishedVersion, other-oa)
PubMed Central (acceptedVersion)
Research Explorer (The University of Manchester) (submittedVersion, other-oa)
Funders: United European Gastroenterology Research Prize, RG76026
Topics: Health Sciences › Medicine › Surgery › Esophageal Cancer Research and Treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords: Barrett's esophagus, esophageal adenocarcinoma, cancer transformation, copy number alterations, early cancer detection, aneuploidy, genomic classification, cancer surveillance, preemptive therapy
MeSH terms: Whole Genome Sequencing, Aged, Aneuploidy, Barrett Esophagus, Biopsy, Esophageal Neoplasms, Female, Humans, Male, Middle Aged, Precancerous Conditions, Genome, Human, Genomics, DNA Copy Number Variations

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