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Genetic and Genomic Biomarkers in Cancer Diagnosis, Prognosis, and Treatment...
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Genetic and Genomic Biomarkers in Cancer Diagnosis, Prognosis, and Treatment Prediction

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 2025 | Viewed by 1546

Special Issue Editor

Prof. Dr. Jianli Dong

E-Mail Website
Guest Editor
Department of Pathology, Sealy Center for Cancer Cell Biology, University of Texas Medical Branch, 5.202 John Sealy Annex, 301 University Boulevard, Galveston, TX 77555, USA
Interests: laboratory genetics and genomics; genetic and genomic biomarkers; cancer biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Advances in cancer genetics and genomics are expanding the opportunities for utilizing genetic and genomic biomarkers in cancer diagnosis, prognosis, and treatment prediction. Cancer genetic and genomic tests typically analyze nucleic acid-based biomarkers and can be categorized based on their clinical applications: diagnostic, prognostic, and predictive.

Diagnostic tests are used for cancer screening, diagnosis, subtyping, and staging. Prognostic tests provide insights into the natural progression of cancer and potential outcomes. In contrast, predictive tests offer information about how likely a patient is to respond to a specific drug or therapy.

Importantly, a single genetic or genomic test may serve multiple purposes depending on the clinical context. The role of these tests in clinical management is expected to grow continuously. For instance, biomarkers can help select patients who are likely to benefit from targeted therapies, monitor treatment resistance, assess recurrence risk, adjust therapeutic dosages, and identify pharmacogenetic risks for adverse drug reactions.

This approach enhances the accuracy of diagnoses, spares patients from ineffective treatments, and minimizes side effects, ultimately leading to more personalized and precise cancer management.

You may choose our Joint Special Issue in Biomolecules.

Dr. Jianli Dong
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

  • cancer genetics and genomics
  • diagnostic tests
  • prognostic tests
  • predictive tests
  • nucleic acid
  • companion diagnostics
  • targeted therapy

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Published Papers (2 papers)

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19 pages, 2601 KiB  
Article
Mortality Outcome Associated with Specific KRAS, NRAS, and BRAF Hot-Spot Mutations in Metastatic Colorectal Cancer Patients: A Retrospective Cohort Study
by Omer Abdelgadir, Yong-Fang Kuo, M. Firoze Khan, Anthony O. Okorodudu, Yu-Wei Cheng and Jianli Dong
Diagnostics 2025, 15(5), 590; https://doi.org/10.3390/diagnostics15050590 - 28 Feb 2025
Viewed by 702
Abstract
Background/Objective: The prognostic value of specific hot-spot mutations within KRAS, NRAS, and BRAF genes in metastatic colorectal cancer (mCRC) genes remains debatable. This study explores whether certain KRAS, NRAS, and BRAF mutations are associated with the risk of all-cause [...] Read more.
Background/Objective: The prognostic value of specific hot-spot mutations within KRAS, NRAS, and BRAF genes in metastatic colorectal cancer (mCRC) genes remains debatable. This study explores whether certain KRAS, NRAS, and BRAF mutations are associated with the risk of all-cause mortality in mCRC. Methods: We retrospectively analyzed records of 494 patients with mCRC treated at the University of Texas Medical Branch between January 2016 and July 2023. Data on genetic mutations and clinicopathological features were collected for this analysis. We estimated survival probabilities and conducted multivariable Cox proportional hazards regression to evaluate the impact of specific mutations on all-cause mortality risk. Results: KRAS c.35G>T (p.Gly12Val) and c.34G>T (p.Gly12Cys) mutations were significantly associated with an increased risk of all-cause mortality in the overall mCRC population and the treated mCRC subgroup. KRAS c.38G>A (p.Gly13Asp) was significantly associated with an increased risk of all-cause mortality in the treated mCRC subgroup but BRAF c.1799T>A (p.Val600Glu) was significantly associated with an increased risk of all-cause mortality in the overall mCRC population. No significant association was observed between NRAS mutations and mortality risk in mCRC, possibly due to their lower frequency or different biological effects compared to KRAS and BRAF mutations. Conclusions: These findings suggest that specific KRAS [c.35G>T (p.Gly12Val), c.34G>T (p.Gly12Cys), and c.38G>A (p.Gly13Asp)] and BRAF c.1799T>A (p.Val600Glu) mutations may have prognostic value in mCRC. However, given the single-center study design and lack of direct therapeutic implications, larger multicenter studies are needed to substantiate these results and better define the clinical relevance of these mutations. Full article
(This article belongs to the Special Issue Genetic and Genomic Biomarkers in Cancer Diagnosis, Prognosis, and Treatment Prediction)
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10 pages, 3476 KiB  
Case Report
An Incidental Finding of Gain of a Diminished Chromosome 12 Centromere in an Individual with Lymphocytosis: A Case Report and Clinical Implications in Cytogenetic Testing
by Changqing Xia, Jeffrey J. Cannatella, Scott C. Smith, Pamela A. Althof, Haley Koerselman, Thomas Hempel, Erin E. Jaworski, Lisa M. Winkler, Joanna R. Spaulding, Diane Pickering, Joseph D. Khoury and Zhenya Tang
Diagnostics 2025, 15(5), 618; https://doi.org/10.3390/diagnostics15050618 - 4 Mar 2025
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Abstract
Background: Fluorescence in situ hybridization (FISH) testing against chromosome 12 centromere (CEN12) is routinely included in the work-up of patients with suspected chronic lymphocytic leukemia (CLL) or monoclonal B-cell lymphocytosis (MBL). However, incidental findings can occur and be challenging. Methods: Interphase and [...] Read more.
Background: Fluorescence in situ hybridization (FISH) testing against chromosome 12 centromere (CEN12) is routinely included in the work-up of patients with suspected chronic lymphocytic leukemia (CLL) or monoclonal B-cell lymphocytosis (MBL). However, incidental findings can occur and be challenging. Methods: Interphase and metaphase FISH analyses with various probes, including CEN12 probes from different vendors, and conventional cytogenetics were applied. Results: A CLL FISH panel was performed at the clinician’s request on a peripheral blood specimen from a 55-year-old female with fluctuating leukocytosis and lymphocytosis for over six years. An additional diminished CEN12 FISH signal was observed in approximately 70% of the nucleated cells analyzed. Concurrent flow cytometry excluded a diagnosis of CLL or MBL, and karyotyping exhibited a normal female karyotype. Further studies excluded potential cross-hybridization due to limited specificity of the CEN12 probes and revealed the location of the additional diminished CEN12 signal on the centromere of one chromosome 16 homolog (CEN16), without other material from the short arm (12p) or long arm (12q) of chromosome 12 being involved. Conclusions: This is the first case with an “uncertain” trisomy 12 status, presenting a challenge to clinical cytogenetic diagnosis. Although the mechanism for this mosaic “partial trisomy 12” and its clinical impact remain unknown, this case highlights the importance of further investigation using orthogonal methods to clarify incidental findings during diagnostic practice. Full article
(This article belongs to the Special Issue Genetic and Genomic Biomarkers in Cancer Diagnosis, Prognosis, and Treatment Prediction)
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