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Blood-Based Detection of Colorectal Cancer Using Cancer-Specific DNA Methylation Markers

Cancer tissues have characteristic DNA methylation profiles compared with their corresponding normal tissues that can be utilized for cancer diagnosis with liquid biopsy. Using a genome-scale DNA methylation approach, we sought to identify a panel of DNA methylation markers specific for cell-free DN...

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Autores principales: Cho, Nam-Yun, Park, Ji-Won, Wen, Xianyu, Shin, Yun-Joo, Kang, Jun-Kyu, Song, Sang-Hyun, Kim, Hwang-Phill, Kim, Tae-You, Bae, Jeong Mo, Kang, Gyeong Hoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823774/
https://www.ncbi.nlm.nih.gov/pubmed/33396258
http://dx.doi.org/10.3390/diagnostics11010051
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author Cho, Nam-Yun
Park, Ji-Won
Wen, Xianyu
Shin, Yun-Joo
Kang, Jun-Kyu
Song, Sang-Hyun
Kim, Hwang-Phill
Kim, Tae-You
Bae, Jeong Mo
Kang, Gyeong Hoon
author_facet Cho, Nam-Yun
Park, Ji-Won
Wen, Xianyu
Shin, Yun-Joo
Kang, Jun-Kyu
Song, Sang-Hyun
Kim, Hwang-Phill
Kim, Tae-You
Bae, Jeong Mo
Kang, Gyeong Hoon
author_sort Cho, Nam-Yun
collection PubMed
description Cancer tissues have characteristic DNA methylation profiles compared with their corresponding normal tissues that can be utilized for cancer diagnosis with liquid biopsy. Using a genome-scale DNA methylation approach, we sought to identify a panel of DNA methylation markers specific for cell-free DNA (cfDNA) from patients with colorectal cancer (CRC). By comparing DNA methylomes between CRC and normal mucosal tissues or blood leukocytes, we identified eight cancer-specific methylated loci (ADGRB1, ANKRD13, FAM123A, GLI3, PCDHG, PPP1R16B, SLIT3, and TMEM90B) and developed a five-marker panel (FAM123A, GLI3, PPP1R16B, SLIT3, and TMEM90B) that detected CRC in liquid biopsies with a high sensitivity and specificity with a droplet digital MethyLight assay. In a set of cfDNA samples from CRC patients (n = 117) and healthy volunteers (n = 60), a panel of five markers on the platform of the droplet digital MethyLight assay detected stages I–III and stage IV CRCs with sensitivities of 45.9% and 95.7%, respectively, and a specificity of 95.0%. The number of detected markers was correlated with the cancer stage, perineural invasion, lymphatic emboli, and venous invasion. Our five-marker panel with the droplet digital MethyLight assay showed a high sensitivity and specificity for the detection of CRC with cfDNA samples from patients with metastatic CRC.
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spelling pubmed-78237742021-01-24 Blood-Based Detection of Colorectal Cancer Using Cancer-Specific DNA Methylation Markers Cho, Nam-Yun Park, Ji-Won Wen, Xianyu Shin, Yun-Joo Kang, Jun-Kyu Song, Sang-Hyun Kim, Hwang-Phill Kim, Tae-You Bae, Jeong Mo Kang, Gyeong Hoon Diagnostics (Basel) Article Cancer tissues have characteristic DNA methylation profiles compared with their corresponding normal tissues that can be utilized for cancer diagnosis with liquid biopsy. Using a genome-scale DNA methylation approach, we sought to identify a panel of DNA methylation markers specific for cell-free DNA (cfDNA) from patients with colorectal cancer (CRC). By comparing DNA methylomes between CRC and normal mucosal tissues or blood leukocytes, we identified eight cancer-specific methylated loci (ADGRB1, ANKRD13, FAM123A, GLI3, PCDHG, PPP1R16B, SLIT3, and TMEM90B) and developed a five-marker panel (FAM123A, GLI3, PPP1R16B, SLIT3, and TMEM90B) that detected CRC in liquid biopsies with a high sensitivity and specificity with a droplet digital MethyLight assay. In a set of cfDNA samples from CRC patients (n = 117) and healthy volunteers (n = 60), a panel of five markers on the platform of the droplet digital MethyLight assay detected stages I–III and stage IV CRCs with sensitivities of 45.9% and 95.7%, respectively, and a specificity of 95.0%. The number of detected markers was correlated with the cancer stage, perineural invasion, lymphatic emboli, and venous invasion. Our five-marker panel with the droplet digital MethyLight assay showed a high sensitivity and specificity for the detection of CRC with cfDNA samples from patients with metastatic CRC. MDPI 2020-12-31 /pmc/articles/PMC7823774/ /pubmed/33396258 http://dx.doi.org/10.3390/diagnostics11010051 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Cho, Nam-Yun
Park, Ji-Won
Wen, Xianyu
Shin, Yun-Joo
Kang, Jun-Kyu
Song, Sang-Hyun
Kim, Hwang-Phill
Kim, Tae-You
Bae, Jeong Mo
Kang, Gyeong Hoon
Blood-Based Detection of Colorectal Cancer Using Cancer-Specific DNA Methylation Markers
title Blood-Based Detection of Colorectal Cancer Using Cancer-Specific DNA Methylation Markers
title_full Blood-Based Detection of Colorectal Cancer Using Cancer-Specific DNA Methylation Markers
title_fullStr Blood-Based Detection of Colorectal Cancer Using Cancer-Specific DNA Methylation Markers
title_full_unstemmed Blood-Based Detection of Colorectal Cancer Using Cancer-Specific DNA Methylation Markers
title_short Blood-Based Detection of Colorectal Cancer Using Cancer-Specific DNA Methylation Markers
title_sort blood-based detection of colorectal cancer using cancer-specific dna methylation markers
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823774/
https://www.ncbi.nlm.nih.gov/pubmed/33396258
http://dx.doi.org/10.3390/diagnostics11010051
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