Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection

The clinical relevance of the colorectal cancer serrated pathway is evident, but the screening of serrated lesions remains challenging. We aimed to characterize the serum methylome of the serrated pathway and to evaluate circulating cell-free DNA (cfDNA) methylomes as a potential source of biomarker...

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Detalhes bibliográficos
Autores: Gallardo Gómez, María, Costas Rios, Lara, Garcia Prieto, Calos A, Álvarez Rodríguez, Lara, Bujanda, Luis
Formato: artículo
Fecha de publicación:2023
País:España
Recursos:Universitat Politècnica de Catalunya (UPC)
Repositorio:UPCommons. Portal del coneixement obert de la UPC
Idioma:inglés
OAI Identifier:oai:upcommons.upc.edu:2117/404752
Acesso em linha:https://hdl.handle.net/2117/404752
https://dx.doi.org/10.1002/1878-0261.13573
Access Level:acceso abierto
Palavra-chave:Colorectal cancer
Epigenetics.
Circulating cell-free DNA
DNA methylation
Non-invasive biomarkers
Screening
Serrated colorectal cancer
Serrated lesions
Simulació per ordinador
Genòmica
Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica
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spelling Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detectionGallardo Gómez, MaríaCostas Rios, LaraGarcia Prieto, Calos AÁlvarez Rodríguez, LaraBujanda, LuisColorectal cancerEpigenetics.Circulating cell-free DNADNA methylationNon-invasive biomarkersScreeningSerrated colorectal cancerSerrated lesionsSimulació per ordinadorGenòmicaÀrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::BioinformàticaThe clinical relevance of the colorectal cancer serrated pathway is evident, but the screening of serrated lesions remains challenging. We aimed to characterize the serum methylome of the serrated pathway and to evaluate circulating cell-free DNA (cfDNA) methylomes as a potential source of biomarkers for the non-invasive detection of serrated lesions. We collected serum samples from individuals with serrated adenocarcinoma (SAC), traditional serrated adenomas, sessile serrated lesions, hyperplastic polyps and individuals with no colorectal findings. First, we quantified cfDNA methylation with the MethylationEPIC array. Then, we compared the methylation profiles with tissue and serum datasets. Finally, we evaluated the utility of serum cfDNA methylation biomarkers. We identified a differential methylation profile able to distinguish high-risk serrated lesions from no serrated neoplasia, showing concordance with tissue methylation from SAC and sessile serrated lesions. Serum methylation profiles are pathway-specific, clearly separating serrated lesions from conventional adenomas. The combination of ninjurin 2 (NINJ2) and glutamate-rich 1 (ERICH1) methylation discriminated high-risk serrated lesions and SAC with 91.4\% sensitivity (64.4\% specificity), while zinc finger protein 718 (ZNF718) methylation reported 100\% sensitivity for the detection of SAC (96\% specificity). This is the first study exploring the serum methylome of serrated lesions. Differential methylation of cfDNA can be used for the non-invasive detection of colorectal serrated lesions.Peer Reviewed"Article signat per 14 autors/es: María Gallardo-Gómez, Lara Costas-Ríos, Carlos A. Garcia-Prieto, Lara Álvarez-Rodríguez, Luis Bujanda, Maialen Barrero, Antoni Castells, Francesc Balaguer, Rodrigo Jover, Manel Esteller, Antoni Tardío Baiges, Joaquín González-Carreró Fojón, Joaquín Cubiella, Loretta De Chiara, Luis Bujanda, Maialen Barrero, Antoni Castells, Francesc Balaguer, Rodrigo Jover, Manel Esteller, Antoni Tardío Baiges, Joaquín González-Carreró Fojón, Joaquín Cubiella, Loretta De Chiara"Wiley20232023-01-0120242024-03-15journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/2117/404752https://dx.doi.org/10.1002/1878-0261.13573reponame:UPCommons. Portal del coneixement obert de la UPCinstname:Universitat Politècnica de Catalunya (UPC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:upcommons.upc.edu:2117/4047522026-05-27T15:37:01Z
dc.title.none.fl_str_mv Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
title Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
spellingShingle Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
Gallardo Gómez, María
Colorectal cancer
Epigenetics.
Circulating cell-free DNA
DNA methylation
Non-invasive biomarkers
Screening
Serrated colorectal cancer
Serrated lesions
Simulació per ordinador
Genòmica
Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica
title_short Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
title_full Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
title_fullStr Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
title_full_unstemmed Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
title_sort Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
dc.creator.none.fl_str_mv Gallardo Gómez, María
Costas Rios, Lara
Garcia Prieto, Calos A
Álvarez Rodríguez, Lara
Bujanda, Luis
author Gallardo Gómez, María
author_facet Gallardo Gómez, María
Costas Rios, Lara
Garcia Prieto, Calos A
Álvarez Rodríguez, Lara
Bujanda, Luis
author_role author
author2 Costas Rios, Lara
Garcia Prieto, Calos A
Álvarez Rodríguez, Lara
Bujanda, Luis
author2_role author
author
author
author
dc.subject.none.fl_str_mv Colorectal cancer
Epigenetics.
Circulating cell-free DNA
DNA methylation
Non-invasive biomarkers
Screening
Serrated colorectal cancer
Serrated lesions
Simulació per ordinador
Genòmica
Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica
topic Colorectal cancer
Epigenetics.
Circulating cell-free DNA
DNA methylation
Non-invasive biomarkers
Screening
Serrated colorectal cancer
Serrated lesions
Simulació per ordinador
Genòmica
Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica
description The clinical relevance of the colorectal cancer serrated pathway is evident, but the screening of serrated lesions remains challenging. We aimed to characterize the serum methylome of the serrated pathway and to evaluate circulating cell-free DNA (cfDNA) methylomes as a potential source of biomarkers for the non-invasive detection of serrated lesions. We collected serum samples from individuals with serrated adenocarcinoma (SAC), traditional serrated adenomas, sessile serrated lesions, hyperplastic polyps and individuals with no colorectal findings. First, we quantified cfDNA methylation with the MethylationEPIC array. Then, we compared the methylation profiles with tissue and serum datasets. Finally, we evaluated the utility of serum cfDNA methylation biomarkers. We identified a differential methylation profile able to distinguish high-risk serrated lesions from no serrated neoplasia, showing concordance with tissue methylation from SAC and sessile serrated lesions. Serum methylation profiles are pathway-specific, clearly separating serrated lesions from conventional adenomas. The combination of ninjurin 2 (NINJ2) and glutamate-rich 1 (ERICH1) methylation discriminated high-risk serrated lesions and SAC with 91.4\% sensitivity (64.4\% specificity), while zinc finger protein 718 (ZNF718) methylation reported 100\% sensitivity for the detection of SAC (96\% specificity). This is the first study exploring the serum methylome of serrated lesions. Differential methylation of cfDNA can be used for the non-invasive detection of colorectal serrated lesions.
publishDate 2023
dc.date.none.fl_str_mv 2023
2023-01-01
2024
2024-03-15
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/2117/404752
https://dx.doi.org/10.1002/1878-0261.13573
url https://hdl.handle.net/2117/404752
https://dx.doi.org/10.1002/1878-0261.13573
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:UPCommons. Portal del coneixement obert de la UPC
instname:Universitat Politècnica de Catalunya (UPC)
instname_str Universitat Politècnica de Catalunya (UPC)
reponame_str UPCommons. Portal del coneixement obert de la UPC
collection UPCommons. Portal del coneixement obert de la UPC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.301603

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