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Genomic copy number predicts esophageal cancer years before transformation
- Source :
- Killcoyne, S, Gregson, E, Wedge, D C, Woodcock, D J, Eldridge, M D, Rue, R D L, Miremadi, A, Abbas, S, Blasko, A, Kosmidou, C, Januszewicz, W, Jenkins, A V, Gerstung, M & Fitzgerald, R C 2020, ' Genomic copy number predicts esophageal cancer years before transformation ', Nature Medicine, vol. 26, no. 11, pp. 1726-1732 . https://doi.org/10.1038/s41591-020-1033-y, https://doi.org/10.1038/s41591-020-1033-y
- Publication Year :
- 2020
- Publisher :
- Springer Nature, 2020.
-
Abstract
- Recent studies show that aneuploidy and driver gene mutations precede cancer diagnosis by many years1–4. 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 exemplar5. 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. Longitudinal molecular profiling of copy number alterations in patients with Barrett’s esophagus can identify patients at higher risk of developing esophageal cancer.
- Subjects :
- 0301 basic medicine
Oncology
Male
medicine.medical_specialty
DNA Copy Number Variations
Esophageal Neoplasms
Biopsy
Aneuploidy
Gene mutation
General Biochemistry, Genetics and Molecular Biology
03 medical and health sciences
Barrett Esophagus
0302 clinical medicine
Internal medicine
Cancer screening
Medicine
Humans
Esophagus
Aged
medicine.diagnostic_test
Manchester Cancer Research Centre
Whole Genome Sequencing
business.industry
Genome, Human
ResearchInstitutes_Networks_Beacons/mcrc
General Medicine
Genomics
Esophageal cancer
Middle Aged
medicine.disease
Human genetics
030104 developmental biology
medicine.anatomical_structure
030220 oncology & carcinogenesis
Histopathology
Female
business
Precancerous Conditions
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Killcoyne, S, Gregson, E, Wedge, D C, Woodcock, D J, Eldridge, M D, Rue, R D L, Miremadi, A, Abbas, S, Blasko, A, Kosmidou, C, Januszewicz, W, Jenkins, A V, Gerstung, M & Fitzgerald, R C 2020, ' Genomic copy number predicts esophageal cancer years before transformation ', Nature Medicine, vol. 26, no. 11, pp. 1726-1732 . https://doi.org/10.1038/s41591-020-1033-y, https://doi.org/10.1038/s41591-020-1033-y
- Accession number :
- edsair.doi.dedup.....583cb2581ee6e55f52312425ba520c4d
- Full Text :
- https://doi.org/10.1038/s41591-020-1033-y