Biomarker-Guided Advances in Diagnostic Medicine

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

Deadline for manuscript submissions: 31 July 2026 | Viewed by 451

Special Issue Editor


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Guest Editor
Institute of Oncology, Rīga Stradiņš University, Pilsoņu Street 13, Block 13, LV-1002 Riga, Latvia
Interests: medical genetics; hereditary cancers; biomarkers; miRNA; microbiome; omics; screening

Special Issue Information

Dear Colleagues,

Biomarkers are measurements of biological variables, which can be detected in different tissues, blood and other body liquids. In addition, the rapid development of microbiome studies allows us to search biomarkers “outside of ourselves”. The huge biological variety leads to an almost limitless number of putative prognostic and predictive biomarkers. On the one hand, this allows us to employ many techniques, encompassing genomics, transcriptomics, proteomics and metabolomics, in combination with bioinformatics and AI. On the other hand, there are strong restrictions that have been determined by clinical settings: biomarkers should preferably be non-invasive, stable, reproducible, have high predictive power and be relatively cheap. In this Special Issue, we aim to provide a platform for communication on the progress of biomarker identification and use in healthcare. Its scope includes, but is not limited to, the following topics:  

- Non-invasive biomarkers for early diagnostics of cancer, cardiovascular and other diseases with a strong impact on healthcare.    

- Predictive biomarkers for estimating the efficacy of therapy in real time.    

- Usage of omics, bioinformatics and AI for identifying novel biomarkers.  

- Liquid biopsy as a source of diagnostic and predictive markers in cancer and other diseases.  

- Microbiome and changes in its composition as a source of diagnostic and predictive biomarkers in cancer, psychiatric disorders and other diseases.    

- Population genetics of biomarkers.    

- Biomarkers for population screening and identification of risk groups.    

- Implementation of biomarkers in clinical settings.    

- Challenges and future perspectives of biomarker research and clinical application.

Prof. Dr. Edvīns Miklaševičs
Guest Editor

Manuscript Submission Information

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Keywords

  • medical genetics
  • hereditary cancers
  • biomarkers
  • miRNA
  • microbiome
  • omics
  • screening

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Published Papers (1 paper)

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Research

16 pages, 1462 KiB  
Article
The Transcriptomic Profile Underlying Somatic Monoallelic BRCA1 Inactivation: A Biomarker for Breast Cancer Prognosis
by Elza Kuznecova, Miki Nakazawa-Miklasevica, Nora Krike, Mihails Satcs, Elina Sivina, Arvids Irmejs, Peteris Loza, Janis Gardovskis, Edvins Miklasevics and Zanda Daneberga
Diagnostics 2025, 15(16), 2037; https://doi.org/10.3390/diagnostics15162037 - 14 Aug 2025
Viewed by 241
Abstract
Background and Objectives: Most of the research on the role of the BRCA1 gene in breast cancer is focused on monoallelic germline alterations and loss of heterozygosity in tumors. The aim of this study was to identify the characteristic transcriptomic pattern of [...] Read more.
Background and Objectives: Most of the research on the role of the BRCA1 gene in breast cancer is focused on monoallelic germline alterations and loss of heterozygosity in tumors. The aim of this study was to identify the characteristic transcriptomic pattern of monoallelic somatic BRCA1 inactivation and estimate its correlation with event-free breast cancer survival. Materials and Methods: We conducted global transcriptome sequencing of breast cancer tissue samples to identify differentially expressed genes and signaling pathways associated with monoallelic somatic BRCA1 inactivation. The study group involved 36 patient samples categorized based on BRCA1 inactivation status. Subsequently, the differential gene expression and Kaplan-Meier analyses in the groups with and without monoallelic somatic BRCA1 inactivation were performed. Results: Kaplan-Meier analysis showed a tendency for longer event-free survival in patients with monoallelic somatic BRCA1 inactivation, suggesting somatic BRCA1 inactivation to be a favorable prognostic. Differential gene expression analysis followed by the STRING tool enrichment analysis showed significant enrichment of proteins in the extracellular region and extracellular space. Conclusions: In this study, we identified transcriptomic profiles of differentially expressed genes TPSD1, FABP4, CARTPT, and MMP9 as indicative of homologous recombination-impaired tumors with a tendency for better therapy results. Full article
(This article belongs to the Special Issue Biomarker-Guided Advances in Diagnostic Medicine)
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