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Títol: Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas
Autor: Gallardo Gómez, María
Rodríguez Girondo, Mar
Planell, Núria
Moran, Sebastian
Bujanda, Luis
Etxart, Ane
Castells Garangou, Antoni
Balaguer, Francesc
Jover, Rodrigo
Esteller, Manel
Cubiella, Joaquín
Gómez Cabrero, David
De Chiara, Loretta
Matèria: RNA
Càncer
RNA
Cancer
Data de publicació: 4-oct-2023
Publicat per: Springer Science and Business Media LLC
Resum: Background Early detection has proven to be the most effective strategy to reduce the incidence and mortality of colorectal cancer (CRC). Nevertheless, most current screening programs suffer from low participation rates. A blood test may improve both the adherence to screening and the selection to colonoscopy. In this study, we conducted a serum-based discovery and validation of cfDNA methylation biomarkers for CRC screening in a multicenter cohort of 433 serum samples including healthy controls, benign pathologies, advanced adenomas (AA), and CRC.Results First, we performed an epigenome-wide methylation analysis with the MethylationEPIC array using a sample pooling approach, followed by a robust prioritization of candidate biomarkers for the detection of advanced neoplasia (AN: AA and CRC). Then, candidate biomarkers were validated by pyrosequencing in independent individual cfDNA samples. We report GALNT9, UPF3A, WARS, and LDB2 as new noninvasive biomarkers for the early detection of AN. The combination of GALNT9/UPF3A by logistic regression discriminated AN with 78.8% sensitivity and 100% specificity, outperforming the commonly used fecal immunochemical test and the methylated SEPT9 blood test.Conclusions Overall, this study highlights the utility of cfDNA methylation for CRC screening. Our results suggest that the combination methylated GALNT9/UPF3A has the potential to serve as a highly specific and sensitive blood-based test for screening and early detection of CRC.
Nota: Reproducció del document publicat a: https://doi.org/10.1186/s13148-023-01570-1
És part de: Clinical Epigenetics, 2023, vol. 15, num. 1
URI: https://hdl.handle.net/2445/207943
Recurs relacionat: https://doi.org/10.1186/s13148-023-01570-1
ISSN: 1868-7083
Apareix en les col·leccions:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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