Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA
| Autor: | Brendan O'Sullivan, Sofia Alyas, Philippe Taniere, Nayneeta Deshmukh, Mike Griffiths, Fabiana Ramos Vasques, Paula Wojtowicz, Adam J. Devall, Joseph M. Foster, Dominic J. McMullan, Karen G. Spink, Nicholas D. James, Richard T. Bryan, Maurice P. Zeegers, Douglas G. Ward, Kar Keung Cheng, Fiona S. Togneri, Assa Oumie |
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| Přispěvatelé: | RS: NUTRIM - R4 - Gene-environment interaction, RS: CAPHRI - R5 - Optimising Patient Care, Complexe Genetica |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty PROGNOSIS CARCINOMA Urinary system Biology Bioinformatics Genome Article 03 medical and health sciences 0302 clinical medicine TUMOR Molecular genetics Biomarkers Tumor Genetics medicine Carcinoma Humans ASSAY Liquid biopsy Genetics (clinical) Chromosome Aberrations Bladder cancer Genome Human fungi DNA Neoplasm DNA medicine.disease Human genetics 030104 developmental biology Urinary Bladder Neoplasms 030220 oncology & carcinogenesis Cancer research Human genome Urothelium |
| Zdroj: | European Journal of Human Genetics European Journal of Human Genetics, 24(8). Nature Publishing Group |
| ISSN: | 1018-4813 |
| DOI: | 10.1038/ejhg.2015.281 |
| Popis: | Urothelial bladder cancers (UBCs) have heterogeneous clinical characteristics that are mirrored in their diverse genomic profiles. Genomic profiling of UBCs has the potential to benefit routine clinical practice by providing prognostic utility above and beyond conventional clinicopathological factors, and allowing for prediction and surveillance of treatment responses. Urinary DNAs representative of the tumour genome provide a promising resource as a liquid biopsy for non-invasive genomic profiling of UBCs. We compared the genomic profiles of urinary cellular DNA and cell-free DNA (cfDNA) from the urine with matched diagnostic formalin-fixed paraffin-embedded tumour DNAs for 23 well-characterised UBC patients. Our data show urinary DNAs to be highly representative of patient tumours, allowing for detection of recurrent clinically actionable genomic aberrations. Furthermore, a greater aberrant load (indicative of tumour genome) was observed in cfDNA over cellular DNA (P |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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