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Diagnostics
Special Issues
Epigenetics in Diagnosis and Treatment of Cancer
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Epigenetics in Diagnosis and Treatment of Cancer

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 May 2022) | Viewed by 7040

Special Issue Editor

Prof. Dr. Sandro Orru

E-Mail Website
Guest Editor
Dipartimento di Scienze Mediche e Sanità Pubblica, Università di Cagliari, Ospedale Binaghi, Via Is Guadazzonis 3, 09126 Cagliari, Italy
Interests: genetics of cancer; immunogenetics and autoimmune diseases

Special Issue Information

Dear Colleagues,

Epigenetic patterns, such as DNA methylation and non-coding RNA expression, can be causative factors of neoplasms. The recent development of NGS genomic techniques has significantly increased our knowledge of the epigenetic modifications involved in cancer. Indeed, numerous genes and molecular pathways that account for epigenetic differences between normal and tumor cells have been identified. Some aberrant epigenetic patterns are specific to certain tumors, which allows for their potential use as biomarkers. It is clear that epigenetics will play a crucial role in future cancer diagnostics and therapy. The current challenge is to collect and transform data into clinical practice and, contemporarily, to ensure the availability of sensitive and low-cost diagnostic tests. This Special Issue of Diagnostics intends to collect scientific contributions focused on the identification and clinical validation of epigenetic biomarkers for early tumor diagnosis and therapy. Contributions on applications related to liquid biopsy and the development of plasma cell-free DNA methylome techniques are also welcomed.

Dr. Sandro Orru
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Epigenetics
  • methylome
  • cancer
  • miRNA
  • gene expression

Published Papers (2 papers)

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Research

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22 pages, 4631 KiB  
Article
Epigenome-Wide DNA Methylation Profiling in Colorectal Cancer and Normal Adjacent Colon Using Infinium Human Methylation 450K
by Rashidah Baharudin, Muhiddin Ishak, Azliana Muhamad Yusof, Sazuita Saidin, Saiful Effendi Syafruddin, Wan Fahmi Wan Mohamad Nazarie, Learn-Han Lee and Nurul-Syakima Ab Mutalib
Diagnostics 2022, 12(1), 198; https://doi.org/10.3390/diagnostics12010198 - 14 Jan 2022
Cited by 9 | Viewed by 3503
Abstract
The aims were to profile the DNA methylation in colorectal cancer (CRC) and to explore cancer-specific methylation biomarkers. Fifty-four pairs of CRCs and the adjacent normal tissues were subjected to Infinium Human Methylation 450K assay and analysed using ChAMP R package. A total [...] Read more.
The aims were to profile the DNA methylation in colorectal cancer (CRC) and to explore cancer-specific methylation biomarkers. Fifty-four pairs of CRCs and the adjacent normal tissues were subjected to Infinium Human Methylation 450K assay and analysed using ChAMP R package. A total of 26,093 differentially methylated probes were identified, which represent 6156 genes; 650 probes were hypermethylated, and 25,443 were hypomethylated. Hypermethylated sites were common in CpG islands, while hypomethylated sites were in open sea. Most of the hypermethylated genes were associated with pathways in cancer, while the hypomethylated genes were involved in the PI3K-AKT signalling pathway. Among the identified differentially methylated probes, we found evidence of four potential probes in CRCs versus adjacent normal; HOXA2 cg06786372, OPLAH cg17301223, cg15638338, and TRIM31 cg02583465 that could serve as a new biomarker in CRC since these probes were aberrantly methylated in CRC as well as involved in the progression of CRC. Furthermore, we revealed the potential of promoter methylation ADHFE1 cg18065361 in differentiating the CRC from normal colonic tissue from the integrated analysis. In conclusion, aberrant DNA methylation is significantly involved in CRC pathogenesis and is associated with gene silencing. This study reports several potential important methylated genes in CRC and, therefore, merit further validation as novel candidate biomarker genes in CRC. Full article
(This article belongs to the Special Issue Epigenetics in Diagnosis and Treatment of Cancer)
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11 pages, 2517 KiB  
Case Report
A 13-Gene DNA Methylation Analysis Using Oral Brushing Specimens as an Indicator of Oral Cancer Risk: A Descriptive Case Report
by Roberto Rossi, Davide B. Gissi, Andrea Gabusi, Viscardo Paolo Fabbri, Tiziana Balbi, Achille Tarsitano and Luca Morandi
Diagnostics 2022, 12(2), 284; https://doi.org/10.3390/diagnostics12020284 - 23 Jan 2022
Cited by 6 | Viewed by 2574
Abstract
Analysis of genetic or epigenetic markers from saliva or brushing specimens has been proposed as a diagnostic aid to identify patients at risk of developing oral cancer. However, no reliable non-invasive molecular method for this purpose is commercially available. In the present report, [...] Read more.
Analysis of genetic or epigenetic markers from saliva or brushing specimens has been proposed as a diagnostic aid to identify patients at risk of developing oral cancer. However, no reliable non-invasive molecular method for this purpose is commercially available. In the present report, we describe the potential application of a procedure based on a 13-gene DNA methylation analysis using oral brushing samples from a patient affected by oral leukoplakia who developed two metachronous oral carcinomas during the follow-up period. A positive or a negative score was calculated for each brushing sample based on a predefined cut-off value. In this patient, a positive score was detected in the oral leukoplakia diagnosed more than 2 years before the development of oral squamous cell carcinoma and subsequently in clinically healthy mucosa 8 months before the appearance of a secondary tumor. This suggests a potential role of our procedure as an indicator of oral cancer risk. Full article
(This article belongs to the Special Issue Epigenetics in Diagnosis and Treatment of Cancer)
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