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Cancer Genetics and Epigenetics: Their Roles and Clinical Implications (2nd Edition)

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: 20 December 2026 | Viewed by 460

Special Issue Editors


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Guest Editor
Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30307, USA
Interests: genetics of sarcoma; pathology of sarcoma; pathology of pediatric solid tumors; pathology of bone and soft tissue tumors; genetics of pediatric solid tumors; pathology and genetics of pediatric melanoma; telomerase and cancer
Special Issues, Collections and Topics in MDPI journals
Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia, CA 91016, USA
Interests: genetics; epigenetics; solid tumors
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is the second edition of the previous one “Cancer Genetics and Epigenetics: Their Roles and Clinical Implications” (https://www.mdpi.com/journal/cancers/special_issues/GZHE0717I9).

Tumor cells undergo critical genetic and epigenetic changes in cancer development and progression. Genetic mutations and alterations in the DNA sequence of specific genes can contribute to the development of cancer by disrupting normal cellular functions. Meanwhile, epigenetic (and epitranscriptomic) modifications such as DNA methylation, histone modifications, and RNA methylation can also affect cancer development by altering gene expression without changing the DNA sequence. Understanding the distinct roles of genetics and epigenetics in cancer is critical for developing targeted and effective therapies. Moreover, it has been recently reported that certain genetic changes (e.g., IDH mutations) could lead to dysregulation of epigenetic signaling to facilitate tumorigenesis. The intersection of cancer genetics and epigenetics has emerged as a dynamic field in cancer research with critical implications for clinical practice.

This Special Issue aims to focus on the genetics and epigenetics of cancer and their clinical implications for cancer diagnosis and treatment and highlight recent advances in understanding the molecular mechanisms underlying the interplay between cancer genetics and epigenetics. Original research articles and reviews covering a broad range of topics, from the identification of novel oncogenic drivers and epigenetic modifiers to the development of innovative diagnostic and therapeutic strategies, are welcome. We look forward to receiving your contributions.

Prof. Dr. Armita Bahrami
Dr. Ying Qing
Guest Editors

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 communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

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. Cancers 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 2900 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

  • cancer genetics
  • cancer epigenetics
  • carcinogenesis
  • cancer prognosis
  • cancer therapeutics
  • genetic mutations
  • DNA methylation
  • histone modifications
  • RNA methylation

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Published Papers (1 paper)

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Research

21 pages, 7923 KB  
Article
Epigenetic Regulation of NKT-Cell-Related Gene Signatures and Prognostic Implications in Oropharyngeal Squamous Cell Carcinoma
by Luka Minarik, Rita Khoueiry, Mirela Leskur, Vincent Cahais, Zdenko Herceg, Merica Glavina Durdov and Benjamin Benzon
Cancers 2025, 17(22), 3666; https://doi.org/10.3390/cancers17223666 - 15 Nov 2025
Viewed by 349
Abstract
Background: Oropharyngeal squamous cell carcinoma (OPSCC) is a major subtype of head and neck cancer, with prognosis increasingly influenced by the tumour immune microenvironment. Although immune checkpoint inhibitors have improved outcomes for some patients, reliable predictive biomarkers remain limited. Methods: This study aimed [...] Read more.
Background: Oropharyngeal squamous cell carcinoma (OPSCC) is a major subtype of head and neck cancer, with prognosis increasingly influenced by the tumour immune microenvironment. Although immune checkpoint inhibitors have improved outcomes for some patients, reliable predictive biomarkers remain limited. Methods: This study aimed to investigate the prognostic relevance and epigenetic regulation of natural killer T (NKT)-cell-related gene signatures in OPSCC. Clinicopathological and transcriptomic data from 81 OPSCC patients were analysed using single-sample gene set enrichment analysis (ssGSEA) to evaluate immune-related gene set enrichment scores. Associations with overall survival and clinical features were assessed, and candidate prognostic genes were further explored through expression, methylation, and network analyses. Results: High NKT cell differentiation enrichment scores were significantly associated with improved survival and favourable clinical features. Gene-level analyses identified ITK, ZNF683, and ATF2 as key prognostic markers linked to T-cell signalling and epigenetic regulation. Methylation profiling revealed hypermethylation of ITK and hypomethylation of ZNF683 in tumour tissues, suggesting an epigenetic basis for altered gene expression. Conclusions: These findings highlight NKT cell differentiation as a strong prognostic indicator in OPSCC and support further exploration of epigenetic–immunologic interactions as potential therapeutic targets. Full article
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