Clinical Diagnosis and Analysis of Cancers

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (25 August 2025) | Viewed by 700

Special Issue Editor


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Guest Editor
Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
Interests: genomics; molecular biology; precision medicine; NGS; liquid biopsy; oncology

Special Issue Information

Dear Colleagues,

Technological advances in the evaluation and diagnosis of cancer over the most recent decade have made it possible to improve the treatment of patients with oncological diseases. By exploring molecular and epigenetic alterations, proteomic features and signatures, and functional pathways, we seek to enhance our understanding of cancer pathophysiology.

Most recently, the availability of computational approaches, machine learning, and artificial intelligence has revolutionized our understanding of complex molecular system, allowing the identification of novel biomarkers and therapeutic approaches.

This Special Issue, titled “Clinical Diagnosis and Analysis of Cancers”, aims to collect high-quality articles on advances in oncological research with a focus on molecular, omics, and technological approaches.

The topics of interest include, but are not limited to, the following:

  • Molecular and cellular genetics of cancer;
  • Proteogenomic and bioinformatic approaches to understanding cancer;
  • New genetic editing techniques and their clinical applications in cancer research;
  • New pre-clinical and clinical approaches to cancer diagnosis and evaluation
  • Machine learning and artificial intelligence analyses;
  • Understanding of genetics and molecular biomarkers of rare cancers.

Dr. Elisa De Paolis
Guest Editor

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Keywords

  • cancer genetics
  • cancer proteomics
  • cancer diagnosis
  • cancer treatments
  • next-generation sequencing
  • genetic editing 
  • machine learning 
  • artificial intelligence

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Published Papers (1 paper)

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Review

16 pages, 901 KB  
Review
Genomics in Lung Cancer: A Scoping Review of the Role of ctDNA in Non-Advanced Non-Small-Cell Lung Cancer in the Prediction of Prognosis After Multimodality Therapeutic Approaches
by Carolina Sassorossi, Jessica Evangelista, Alessio Stefani, Marco Chiappetta, Antonella Martino, Annalisa Campanella, Elisa De Paolis, Dania Nachira, Marzia Del Re, Francesco Guerrera, Luca Boldrini, Andrea Urbani, Stefano Margaritora, Angelo Minucci, Emilio Bria and Filippo Lococo
Genes 2025, 16(8), 962; https://doi.org/10.3390/genes16080962 - 15 Aug 2025
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Abstract
Background: Circulating tumor DNA (ctDNA), shed into bodily fluids by cancer cells through apoptosis, necrosis, or active secretion, is currently used in the field of genomic investigation in clinical settings, primarily for advanced stages of non-small-cell lung cancer (NSCLC). However, its potential [...] Read more.
Background: Circulating tumor DNA (ctDNA), shed into bodily fluids by cancer cells through apoptosis, necrosis, or active secretion, is currently used in the field of genomic investigation in clinical settings, primarily for advanced stages of non-small-cell lung cancer (NSCLC). However, its potential role in guiding the multi-omic approach to early-stage NSCLC is emerging as a promising area of investigation. Efforts are being made to integrate the genomics not only in surgery, but also in the definition of long-term prognosis after surgical or radiotherapy and for the prediction of recurrence. Methods: An extensive literature search was conducted on PubMed, covering publications from 2000 to 2024. Using the advanced search tool, titles and abstracts were filtered based on the following keywords: ctDNA, early stage, NSCLC. From this search, 20 studies that fulfilled all inclusion criteria were selected for analysis in this review. Results: This review highlights the growing body of evidence supporting the potential clinical use of ctDNA as a genomic biomarker in managing early-stage NSCLC. Baseline ctDNA levels offer valuable information about tumor molecular biology and histological characteristics. Beyond its prognostic value before treatment, liquid biopsy has proven useful for tracking minimal residual disease and forecasting recurrence following curative interventions such as surgery or radiotherapy. Future adjuvant treatment decisions may increasingly rely on predictive models that incorporate liquid biopsy findings alongside other clinical factors. Conclusions: The potential use of this analyte introduces new opportunities for the integration of genomic data in treatment, as well as relapse monitoring with more accurate and innovative than traditional methods, particularly in patients with early-stage NSCLC Full article
(This article belongs to the Special Issue Clinical Diagnosis and Analysis of Cancers)
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