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Beyond Genomics: Epigenetic and Transcriptomic Dynamics in Tumor Progression
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Beyond Genomics: Epigenetic and Transcriptomic Dynamics in Tumor Progression

A special issue of Journal of Molecular Pathology (ISSN 2673-5261).

Deadline for manuscript submissions: 31 August 2025 | Viewed by 807

Special Issue Editor

Dr. Dario De Biase

E-Mail Website
Guest Editor
Department of Pharmacy and Biotechnology, University of Bologna, Viale Ercolani 4/2, S.Orsola Hospital, Bologna, Italy
Interests: next-generation sequencing; predictive markers in solid tumors; molecular pathology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue investigates the complex genetic, epigenetic, and transcriptomic alterations that drive tumor formation and progression. By combining multi-omics methods, researchers hope to discover novel biomarkers and possible treatment targets, improving our understanding of cancer biology and the intricate relationships that drive tumor activity. This issue seeks to collect papers that investigate these dynamic regulatory networks, thereby contributing to the development of more precise diagnostic and prognostic tools to enhance clinical outcomes for cancer patients.

Dr. Dario De Biase
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. Journal of Molecular Pathology is an international peer-reviewed open access quarterly 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 1000 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

  • tumor formation
  • tumor progression
  • diagnostic and prognostic tools
  • predictive markers in solid tumors
  • molecular pathology
  • biomarkers
  • cancer

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Published Papers (1 paper)

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Research

12 pages, 472 KiB  
Article
Impact of hMLH1 −93G>A (rs1800734) and hMSH2 1032G>A (rs4987188) Polymorphisms on Colorectal Cancer Susceptibility
by Bayram Bayramov, Nigar Karimova, Nigar Mehdiyeva, Hagigat Valiyeva, Rena Karimova, Royal Shirinov, Hazi Aslanov, Zumrud Safarzade, Orkhan Isayev and Nuru Bayramov
J. Mol. Pathol. 2025, 6(3), 15; https://doi.org/10.3390/jmp6030015 - 8 Jul 2025
Viewed by 241
Abstract
Background: This study is the first to investigate the association between colorectal cancer (CRC) risk and the hMLH1 −93G>A and hMSH2 1032G>A polymorphisms of mismatch repair (MMR) genes in the Azerbaijani population. Methods: Peripheral blood samples containing EDTA were collected from the study [...] Read more.
Background: This study is the first to investigate the association between colorectal cancer (CRC) risk and the hMLH1 −93G>A and hMSH2 1032G>A polymorphisms of mismatch repair (MMR) genes in the Azerbaijani population. Methods: Peripheral blood samples containing EDTA were collected from the study subjects (134 patients and 137 controls), and genomic DNA was extracted using the non-enzymatic salting-out method. Genotypes were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP), and the results were visualized through agarose gel electrophoresis. Results: Overall, no statistically significant correlation was observed between CRC risk and the hMLH1 −93G>A polymorphism in the heterozygous GA (OR = 0.760; 95% CI = 0.374–1.542; p = 0.446), the mutant AA (OR = 1.474; 95% CI = 0.738–2.945; p = 0.270), or the A allele (OR = 1.400; 95% CI = 0.984–1.995; p = 0.062). However, in contrast to the dominant model, a statistically significant association was found between the recessive model and an increased CRC risk, with an odds ratio of 1.788 (95% CI = 1.102–2.900; p = 0.018). The hMLH1 −93G>A polymorphism was identified at a significantly higher frequency across the TNM stages, with the distribution showing statistical significance (p < 0.05). Additionally, no statistically significant association was observed between the hMSH2 1032G>A polymorphism and CRC risk. Conclusions: Although no overall association was observed for hMLH1 −93G>A, our findings suggest a potential link with increased colorectal cancer risk under the recessive model in the Azerbaijani population. Further studies are warranted to confirm this model-specific association and investigate the underlying biological mechanisms. Full article
(This article belongs to the Special Issue Beyond Genomics: Epigenetic and Transcriptomic Dynamics in Tumor Progression)
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