Potential applications of DNA methylation testing technology in female tumors and screening methods

Peng, Shixuan; Zhang, Xinwen; Wu, Yongjun

doi:10.1016/j.bbcan.2023.188941

Cited by 3 publications

(1 citation statement)

References 104 publications

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“…DNA methylation, one of the most common and characteristic epigenetic modifications, is closely related to gene regulation and many biological processes. , Aberrant DNA methylation in the promoter region of oncogenes has been implicated in the pathogenesis of numerous diseases, particularly cancer. − Nowadays, the early diagnosis and prognosis of cancer gradually rely on liquid biopsy techniques through the detection of circulating tumor DNA (ctDNA), which reflects the genomic information on tumor tissues, including the hypermethylation of specific genes. While methylated ctDNA in liquid biopsy specimens is always accompanied by large amounts of unmethylated DNA from healthy tissues, resulting in the methylated frequencies as low as 0.01% .…”

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confidence: 99%

Single Methylation Sensitive Restriction Endonuclease-Based Cascade Exponential Amplification Assay for Visual Detection of DNA Methylation at Single-Molecule Level

Pataer,

Zhang,

2024

Anal. Chem.

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Function as a potential cancer biomarker, DNA methylation shows great significance in cancer diagnosis, prognosis, and treatment monitoring. While the lack of an ultrasensitive, specific, and accurate method at the single-molecule level hinders the analysis of the exceedingly low levels of DNA methylation. Herein, based on the outstanding recognition and digestion ability of methylation-sensitive restriction endonuclease (MSRE), we established a single MSRE-based cascade exponential amplification method, which requires only two ingeniously designed primers and only one recognition site of MSRE for the detection of DNA methylation. Differentiated by MSRE digestion, the cleaved unmethylated DNA is too short to induce any amplification reactions, while methylated DNA remains intact to trigger cascade exponential amplification and the subsequent CRISPR/Cas12a system. By integrating the two exponential amplification reactions, as low as 1 aM methylated DNA can be accurately detected, which corresponds to 6 molecules in a 10 μL system, indicating that our method is more sensitive than single amplification-based methods with the ability to detect DNA methylation at the single-molecule level. In addition, 0.1% methylated DNA can be effectively distinguished from large amounts of unmethylated DNA. Our method is further introduced to exploit the expression difference of DNA methylation among normal cells and cancer cells. Moreover, the visual detection of DNA methylation is also realized by the full hybridization between amplification products and the crRNA of CRISPR/Cas12a. Therefore, the proposed method has great potential to be a promising and robust bisulfite-free method for the detection of DNA methylation at the single-molecule level, which is of great importance for early diagnosis of cancer.

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confidence: 99%

Single Methylation Sensitive Restriction Endonuclease-Based Cascade Exponential Amplification Assay for Visual Detection of DNA Methylation at Single-Molecule Level

Pataer,

Zhang,

2024

Anal. Chem.

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An introduction to personalized medicine

Bornhorst

2024

Therapeutic Drug Monitoring

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Current data and future perspectives on DNA methylation in ovarian cancer (Review)

Fu,

Deng,

Chen

et al. 2024

Int J Oncol

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Ovarian cancer (OC) represents the most prevalent malignancy of the female reproductive system. Its distinguishing features include a high aggressiveness, substantial morbidity and mortality, and a lack of apparent symptoms, which collectively pose significant challenges for early detection. Given that aberrant DNA methylation events leading to altered gene expression are characteristic of numerous tumor types, there has been extensive research into epigenetic mechanisms, particularly DNA methylation, in human cancers. In the context of OC, DNA methylation is often associated with the regulation of critical genes, such as BRCA1/2 and Ras-association domain family 1A. Methylation modifications within the promoter regions of these genes not only contribute to the pathogenesis of OC, but also induce medication resistance and influence the prognosis of patients with OC. As such, a more in-depth understanding of DNA methylation underpinning carcinogenesis could potentially facilitate the development of more effective therapeutic approaches for this intricate disease. The present review focuses on classical tumor suppressor genes, oncogenes, signaling pathways and associated microRNAs in an aim to elucidate the influence of DNA methylation on the development and progression of OC. The advantages and limitations of employing DNA methylation in the diagnosis, treatment and prevention of OC are also discussed. On the whole, the present literature review indicates that the DNA methylation of specific genes could potentially serve as a prognostic biomarker for OC and a therapeutic target for personalized treatment strategies. Further investigations in this field may yield more efficacious diagnostic and therapeutic alternatives for patients with OC.

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Potential applications of DNA methylation testing technology in female tumors and screening methods

Cited by 3 publications

References 104 publications

Single Methylation Sensitive Restriction Endonuclease-Based Cascade Exponential Amplification Assay for Visual Detection of DNA Methylation at Single-Molecule Level

Single Methylation Sensitive Restriction Endonuclease-Based Cascade Exponential Amplification Assay for Visual Detection of DNA Methylation at Single-Molecule Level

An introduction to personalized medicine

Current data and future perspectives on DNA methylation in ovarian cancer (Review)

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