Article
Oncology
Shuo Hu, Jinsheng Tao, Minhua Peng, Zhujia Ye, Zhiwei Chen, Haisheng Chen, Haifeng Yu, Bo Wang, Jian-Bing Fan, Bin Ni
Summary: This study identified 7 differentially methylated genes associated with lung cancer and developed a diagnostic model based on these genes to distinguish lung cancer from benign diseases. The model showed high accuracy and sensitivity in both tissue and plasma samples, suggesting its potential as a noninvasive method for early detection of lung cancer.
BIOMARKER RESEARCH
(2023)
Article
Oncology
Qingxiao Fang, Ziming Yuan, Hanqing Hu, Weiyuan Zhang, Guiyu Wang, Xishan Wang
Summary: Through genome-wide analysis and validation, we identified four CpG sites (cg04486886, cg06712559, cg13539460, and cg27541454) as DNA methylation markers in colorectal cancer tissues. The diagnostic prediction model based on these markers can effectively distinguish colorectal cancer from polyp patients, and the md-score can robustly detect colorectal cancer. The cg27541454 may be a promising candidate noninvasive biomarker for early diagnosis of colorectal cancer.
CLINICAL EPIGENETICS
(2023)
Article
Oncology
Xin Yang, Xiaofeng Wen, Qin Guo, Yunfeng Zhang, Zhenxing Liang, Qian Wu, Zhihao Li, Weimei Ruan, Zhujia Ye, Hong Wang, Zhiwei Chen, Jian-Bing Fan, Ping Lan, Huashan Liu, Xianrui Wu
Summary: This study established a prognostic prediction model based on noninvasive circulating tumor DNA methylation markers for colorectal cancer patients. The model was able to classify patients into high recurrence risk and low recurrence risk groups. The model demonstrated robust predictive potential.
CLINICAL EPIGENETICS
(2022)
Review
Pathology
Ruyue Xue, Lu Yang, Meijia Yang, Fangfang Xue, Lifeng Li, Manjiao Liu, Yong Ren, Yu Qi, Jie Zhao
Summary: Lung cancer is a leading cause of cancer-related death, and early diagnosis is crucial. Plasma circulating cell-free DNA (cfDNA) can be used non-invasively and cost-effectively to detect lung cancer through high-sensitivity sequencing techniques, as it contains comprehensive genetic and epigenetic information from tissues throughout the body.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2023)
Article
Critical Care Medicine
Siwei Wang, Fanchen Meng, Ming Li, Hua Bao, Xin Chen, Meng Zhu, Rui Liu, Xiuxiu Xu, Shanshan Yang, Xue Wu, Yang Shao, Lin Xu, Rong Yin
Summary: In this study, an accurate and affordable approach for early-stage lung cancer detection was established by integrating cfDNA fragmentomics and machine learning models. The stacked ensemble model achieved superior sensitivity for detecting early-stage lung cancer, which could promote early diagnosis and benefit more patients.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Editorial Material
Biotechnology & Applied Microbiology
Peiyong Jiang, Y. M. Dennis Lo
Summary: A new assay for cell-free DNA fragmentation enhances the prediction of gene expression in liquid biopsies.
NATURE BIOTECHNOLOGY
(2022)
Article
Oncology
ZeWen Xiao, Wendy Wu, Chunlong Wu, Man Li, Fuming Sun, Lu Zheng, Gaojing Liu, Xiaoling Li, Zhiyuan Yun, Jiebing Tang, Yang Yu, Shengnan Luo, Wenji Sun, Xiaohong Feng, Qian Cheng, Xue Tao, Shuangxiu Wu, Ji Tao
Summary: This study revealed distinct 5hmC signatures in cfDNA of CRC and AD patients compared to healthy controls, potentially aiding in early-stage CRC screening and assessing adenoma malignancy. The findings imply the importance of 5hmC modifications for different pathological subtypes in colorectal diseases, suggesting the need for further large-scale follow-up studies.
MOLECULAR ONCOLOGY
(2021)
Article
Genetics & Heredity
Sebastian Stasik, Marika Mende, Caroline Schuster, Sandra Mahler, Daniela Aust, Andrea Tannapfel, Anke Reinacher-Schick, Gustavo Baretton, Claudia Krippendorf, Martin Bornhaeuser, Gerhard Ehninger, Gunnar Folprecht, Christian Thiede
Summary: The study evaluated the stability and yield of plasma cell-free DNA for routine diagnostics using different blood collection tubes and extraction protocols. It found that certain conditions can increase sensitivity for low-level ctDNA and detected ctDNA persistence in clinical samples.
FRONTIERS IN GENETICS
(2022)
Article
Oncology
Juan Ruiz-Banobre, Aitor Rodriguez-Casanova, Nicolas Costa-Fraga, Aida Bao-Caamano, Ana Alvarez-Castro, Martin Carreras-Presas, Elena Brozos-Vazquez, Yolanda Vidal-Insua, Francisca Vazquez-Rivera, Sonia Candamio-Folgar, Manuel Mosquera-Presedo, Ramon M. Lago-Leston, Laura Muinelo-Romay, Jose Angel Vazquez-Bueno, Rebeca Sanz-Pamplona, Victor Moreno, Ajay Goel, Lourdes Castillo, Ana C. Martin, Rocio Arroyo, Manel Esteller, Ana B. Crujeiras, Rafael Lopez-Lopez, Angel Diaz-Lagares
Summary: Hypermethylation of the LINC00473 promoter is a promising biomarker for the noninvasive early detection of colorectal cancer and related precancerous lesions.
CLINICAL EPIGENETICS
(2022)
Article
Oncology
Xianrui Wu, Yunfeng Zhang, Tuo Hu, Xiaowen He, Yifeng Zou, Qiling Deng, Jia Ke, Lei Lian, Xiaosheng He, Dezhi Zhao, Xuyu Cai, Zhiwei Chen, Xiaojian Wu, Jian-Bing Fan, Feng Gao, Ping Lan
Summary: The study established and validated a non-invasive cfDNA methylation model based on 11 DNA methylation biomarkers for the detection of early-stage CRC and AA, which may contribute significantly to the early diagnosis of CRC.
MOLECULAR ONCOLOGY
(2021)
Review
Genetics & Heredity
Megan E. Barefoot, Netanel Loyfer, Amber J. Kiliti, A. Patrick McDeed, Tommy Kaplan, Anton Wellstein
Summary: Traditional tissue biopsies for cancer diagnostics have limitations such as invasiveness and sampling inaccuracies, while liquid biopsies offer a complementary approach to detect dynamic changes in specific cell populations. Changes in cellular origins of cfDNA can reveal altered tissue homeostasis, including cancer invasion and metastasis, as well as treatment responses.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
Arash Jamshidi, Minetta C. Liu, Eric A. Klein, Oliver Venin, Earl Hubbell, John F. Beausang, Samuel Gross, Collin Melton, Alexander P. Fields, Qinwen Liu, Nan Zhang, Eric T. Fung, Kathryn N. Kurtzman, Hamed Amini, Craig Betts, Daniel Civello, Peter Freese, Robert Calef, Konstantin Davydov, Saniya Fayzullina, Chenlu Hou, Roger Jiang, Byoungsok Jung, Susan Tang, Vasiliki Demas, Joshua Newman, Onur Sakarya, Eric Scott, Archana Shenoy, Seyedmehdi Shojaee, Kristan K. Steffen, Virgil Nicula, Tom C. Chien, Siddhartha Bagaria, Nathan Hunkapiller, Mohini Desai, Zhao Dong, Donald A. Richards, Timothy J. Yeatman, Allen L. Cohn, David D. Thiel, Donald A. Berry, Mohan K. Tummala, Kristi MCIntyre, Mikkael A. Sekeres, Alan Bryce, Alexander M. Aravanis, Michael V. Seiden, Charles Swanton
Summary: In this study, we evaluated several approaches for a circulating cell-free DNA (cfDNA)-based multi-cancer early detection (MCED) test and identified the most promising method, which is the use of whole-genome methylation feature. cTAF is an important predictor of classifier performance and more closely reflects tumor biology.
Article
Oncology
E. La Rocca, M. C. De Santis, M. Silvestri, E. Ortolan, M. Valenti, S. Folli, F. G. de Braud, G. Bianchi, G. P. Scaperrotta, G. Apolone, M. G. Daidone, V Cappelletti, G. Pruneri, S. Di Cosimo
Summary: This study analyzed the current practices and the use of circulating tumor DNA (ctDNA) in monitoring high-risk breast cancer patients. The results showed that some recurrences were still symptomatic, but ctDNA is a specific test that is sensitive enough to detect recurrence before other methods.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2022)
Article
Medicine, General & Internal
Guibin Qiao, Weitao Zhuang, Bo Dong, Chengcheng Li, Jiayue Xu, Guoqiang Wang, Liang Xie, Zihao Zhou, Dan Tian, Gang Chen, Jiming Tang, Haiyu Zhou, Dongkun Zhang, Ruiqing Shi, Rixin Chen, Weiqi Nian, Yuzi Zhang, Jing Zhao, Xiaofang Wen, Yu Xu, Bingsi Li, Zhihong Zhang, Shangli Cai, Xiaosong Ben, Yu Qi
Summary: This study found specific methylation markers for esophageal cancer (ESCA) based on tumor and adjacent tissues, and developed a classifier to differentiate ESCA from healthy controls and benign esophageal disease with promising sensitivity and specificity. The classifier showed consistent performance in an independent plasma validation cohort, indicating the potential of cfDNA methylation in early detection of ESCA. Prospective evaluation of the classifier in high-risk individuals for early detection of ESCA is recommended.
Review
Multidisciplinary Sciences
Qiang Gao, Qiang Zeng, Zhijie Wang, Chengcheng Li, Yu Xu, Peng Cui, Xin Zhu, Huafei Lu, Guoqiang Wang, Shangli Cai, Jie Wang, Jia Fan
Summary: Effective screening methods for cancers are limited and often have complicated procedures and suboptimal performance. Developing simple, accurate, and non-invasive early detection methods is urgently needed. Genetic and epigenetic alterations in circulating cell-free DNA (cfDNA) in plasma have shown potential to improve early detection and subsequent diagnosis of cancers. This review provides insights into the current technological and clinical advances of cfDNA assays and outlines the future developments in the field of early cancer detection.
