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A novel screening method of DNA methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions

BACKGROUND: Colorectal cancer (CRC) is one of the most common malignancies, and early detection plays a crucial role in enhancing curative outcomes. While colonoscopy is considered the gold standard for CRC diagnosis, noninvasive screening methods of DNA methylation biomarkers can improve the early...

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Autores principales: Li, Yuan, Li, Bin, Jiang, Rou, Liao, Leen, Zheng, Chunting, Yuan, Jie, Zeng, Liuhong, Hu, Kunling, Zhang, Yuyu, Mei, Weijian, Hong, Zhigang, Xiao, Binyi, Kong, Lingheng, Han, Kai, Tang, Jinghua, Jiang, Wu, Pan, Zhizhong, Zhang, Shenyan, Ding, Peirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660402/
https://www.ncbi.nlm.nih.gov/pubmed/37881109
http://dx.doi.org/10.1002/cam4.6511
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author Li, Yuan
Li, Bin
Jiang, Rou
Liao, Leen
Zheng, Chunting
Yuan, Jie
Zeng, Liuhong
Hu, Kunling
Zhang, Yuyu
Mei, Weijian
Hong, Zhigang
Xiao, Binyi
Kong, Lingheng
Han, Kai
Tang, Jinghua
Jiang, Wu
Pan, Zhizhong
Zhang, Shenyan
Ding, Peirong
author_facet Li, Yuan
Li, Bin
Jiang, Rou
Liao, Leen
Zheng, Chunting
Yuan, Jie
Zeng, Liuhong
Hu, Kunling
Zhang, Yuyu
Mei, Weijian
Hong, Zhigang
Xiao, Binyi
Kong, Lingheng
Han, Kai
Tang, Jinghua
Jiang, Wu
Pan, Zhizhong
Zhang, Shenyan
Ding, Peirong
author_sort Li, Yuan
collection PubMed
description BACKGROUND: Colorectal cancer (CRC) is one of the most common malignancies, and early detection plays a crucial role in enhancing curative outcomes. While colonoscopy is considered the gold standard for CRC diagnosis, noninvasive screening methods of DNA methylation biomarkers can improve the early detection of CRC and precancerous lesions. METHODS: Bioinformatics and machine learning methods were used to evaluate CRC‐related genes within the TCGA database. By identifying the overlapped genes, potential biomarkers were selected for further validation. Methylation‐specific PCR (MSP) was utilized to identify the associated genes as biomarkers. Subsequently, a real‐time PCR assay for detecting the presence of neoplasia or cancer of the colon or rectum was established. This screening approach involved the recruitment of 978 participants from five cohorts. RESULTS: The genes with the highest specificity and sensitivity were Septin9, AXL4, and SDC2. A total of 940 participants were involved in the establishment of the final PCR system and the subsequent performance evaluation test. A multiplex TaqMan real‐time PCR system has been illustrated to greatly enhance the ability to detect precancerous lesions and achieved an accuracy of 87.8% (95% CI 82.9–91.5), a sensitivity of 82.7% (95% CI 71.8–90.1), and a specificity of 90.1% (95% CI 84.3–93.9). Moreover, the detection rate of precancerous lesions of this assay reached 55.0% (95% CI 38.7–70.4). CONCLUSION: The combined detection of the methylation status of SEPT9, SDC2, and ALX4 in plasma holds the potential to further enhance the sensitivity of CRC detection.
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spelling pubmed-106604022023-10-25 A novel screening method of DNA methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions Li, Yuan Li, Bin Jiang, Rou Liao, Leen Zheng, Chunting Yuan, Jie Zeng, Liuhong Hu, Kunling Zhang, Yuyu Mei, Weijian Hong, Zhigang Xiao, Binyi Kong, Lingheng Han, Kai Tang, Jinghua Jiang, Wu Pan, Zhizhong Zhang, Shenyan Ding, Peirong Cancer Med Research Articles BACKGROUND: Colorectal cancer (CRC) is one of the most common malignancies, and early detection plays a crucial role in enhancing curative outcomes. While colonoscopy is considered the gold standard for CRC diagnosis, noninvasive screening methods of DNA methylation biomarkers can improve the early detection of CRC and precancerous lesions. METHODS: Bioinformatics and machine learning methods were used to evaluate CRC‐related genes within the TCGA database. By identifying the overlapped genes, potential biomarkers were selected for further validation. Methylation‐specific PCR (MSP) was utilized to identify the associated genes as biomarkers. Subsequently, a real‐time PCR assay for detecting the presence of neoplasia or cancer of the colon or rectum was established. This screening approach involved the recruitment of 978 participants from five cohorts. RESULTS: The genes with the highest specificity and sensitivity were Septin9, AXL4, and SDC2. A total of 940 participants were involved in the establishment of the final PCR system and the subsequent performance evaluation test. A multiplex TaqMan real‐time PCR system has been illustrated to greatly enhance the ability to detect precancerous lesions and achieved an accuracy of 87.8% (95% CI 82.9–91.5), a sensitivity of 82.7% (95% CI 71.8–90.1), and a specificity of 90.1% (95% CI 84.3–93.9). Moreover, the detection rate of precancerous lesions of this assay reached 55.0% (95% CI 38.7–70.4). CONCLUSION: The combined detection of the methylation status of SEPT9, SDC2, and ALX4 in plasma holds the potential to further enhance the sensitivity of CRC detection. John Wiley and Sons Inc. 2023-10-25 /pmc/articles/PMC10660402/ /pubmed/37881109 http://dx.doi.org/10.1002/cam4.6511 Text en © 2023 The Authors. Cancer Medicine published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Li, Yuan
Li, Bin
Jiang, Rou
Liao, Leen
Zheng, Chunting
Yuan, Jie
Zeng, Liuhong
Hu, Kunling
Zhang, Yuyu
Mei, Weijian
Hong, Zhigang
Xiao, Binyi
Kong, Lingheng
Han, Kai
Tang, Jinghua
Jiang, Wu
Pan, Zhizhong
Zhang, Shenyan
Ding, Peirong
A novel screening method of DNA methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions
title A novel screening method of DNA methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions
title_full A novel screening method of DNA methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions
title_fullStr A novel screening method of DNA methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions
title_full_unstemmed A novel screening method of DNA methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions
title_short A novel screening method of DNA methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions
title_sort novel screening method of dna methylation biomarkers helps to improve the detection of colorectal cancer and precancerous lesions
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660402/
https://www.ncbi.nlm.nih.gov/pubmed/37881109
http://dx.doi.org/10.1002/cam4.6511
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