Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.

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...

Descripción completa

Detalles Bibliográficos
Autores: Gallardo-Gómez M, Rodríguez-Girondo M, Planell N, Moran S, Bujanda L, Etxart A, Castells A, Balaguer F, Jover R, Esteller M, Cubiella J, Gómez-Cabrero D, De Chiara L
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
Repositorio:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
OAI Identifier:oai:isabial.fundanetsuite.com:p9943
Acceso en línea:https://isabial.portalinvestigacion.com/publicaciones9943
https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-023-01570-1
Access Level:acceso abierto
Palabra clave:Advanced adenomas
Cancer prevention
Circulating cell-free DNA
Colorectal cancer
DNA methylation
Liquid biopsy
Screening
Serum
id ES_7c6134179923dbe2eb7d35c4e2fdcd29
oai_identifier_str oai:isabial.fundanetsuite.com:p9943
network_acronym_str ES
network_name_str España
repository_id_str
spelling Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.Gallardo-Gómez MRodríguez-Girondo MPlanell NMoran SBujanda LEtxart ACastells ABalaguer FJover REsteller MCubiella JGómez-Cabrero DDe Chiara LAdvanced adenomasCancer preventionCirculating cell-free DNAColorectal cancerDNA methylationLiquid biopsyScreeningSerumBACKGROUND: 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.BMC2023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://isabial.portalinvestigacion.com/publicaciones9943https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-023-01570-1Clinical EpigeneticsISSN: 18687075ISSNe: 18687083reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicanteinstname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)Inglésinfo:eu-repo/semantics/openAccessoai:isabial.fundanetsuite.com:p99432026-06-12T10:20:37Z
dc.title.none.fl_str_mv Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
title Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
spellingShingle Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
Gallardo-Gómez M
Advanced adenomas
Cancer prevention
Circulating cell-free DNA
Colorectal cancer
DNA methylation
Liquid biopsy
Screening
Serum
title_short Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
title_full Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
title_fullStr Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
title_full_unstemmed Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
title_sort Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
dc.creator.none.fl_str_mv Gallardo-Gómez M
Rodríguez-Girondo M
Planell N
Moran S
Bujanda L
Etxart A
Castells A
Balaguer F
Jover R
Esteller M
Cubiella J
Gómez-Cabrero D
De Chiara L
author Gallardo-Gómez M
author_facet Gallardo-Gómez M
Rodríguez-Girondo M
Planell N
Moran S
Bujanda L
Etxart A
Castells A
Balaguer F
Jover R
Esteller M
Cubiella J
Gómez-Cabrero D
De Chiara L
author_role author
author2 Rodríguez-Girondo M
Planell N
Moran S
Bujanda L
Etxart A
Castells A
Balaguer F
Jover R
Esteller M
Cubiella J
Gómez-Cabrero D
De Chiara L
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Advanced adenomas
Cancer prevention
Circulating cell-free DNA
Colorectal cancer
DNA methylation
Liquid biopsy
Screening
Serum
topic Advanced adenomas
Cancer prevention
Circulating cell-free DNA
Colorectal cancer
DNA methylation
Liquid biopsy
Screening
Serum
description 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.
publishDate 2023
dc.date.none.fl_str_mv 2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://isabial.portalinvestigacion.com/publicaciones9943
https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-023-01570-1
url https://isabial.portalinvestigacion.com/publicaciones9943
https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-023-01570-1
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv Clinical Epigenetics
ISSN: 18687075
ISSNe: 18687083
reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
instname_str Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
reponame_str r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
collection r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869411585582170112
score 15,81155

Similares en LA Referencia