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Precision Oncology in Clinical Cancer Genomics
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Precision Oncology in Clinical Cancer Genomics

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 October 2023) | Viewed by 2442

Special Issue Editor

Prof. Dr. Zodwa Dlamini

E-Mail Website
Guest Editor
SAMRC Precision Oncology Research Unit (PORU), DSI/NRF SARChI Chair in Precision Oncology and Cancer Prevention (POCP), Pan African Cancer Research Institute (PACRI), University of Pretoria, Hatfield 0028, South Africa
Interests: precision oncology; AI and cancer; oncogenomics; cancer health disparities; cancer control and prevention; cancer vaccines; cancer immunotherapies; viral oncogenomics

Special Issue Information

Dear Colleagues,

Precision medicine can be defined as the tailoring of medicine to suit a group of people or a specific individual, based on genetic or molecular profiling using genomic, transcriptomic, epigenomic, or proteomic information. When applied to cancer, personalized medicine is known as precision oncology and promises to revolutionise cancer management by optimising patient treatment, personalised screening, diagnosis, therapy, and monitoring. This can only be accomplished using large data sets which need to be processed, integrated, and analysed to identify molecular patterns. Precision oncology can result in treatments with less side effects and ensure higher patient survival rates, through increased control and management. Population-group-specific diagnostic or prognostic biomarkers can be identified through the analysis of these molecular patterns that could also be used to track the progress of the disease and monitor the response to treatments and detect drug resistance. This surveillance may even allow for the identification and targeting of molecular pathways involved in drug resistance. I would like to invite submissions of original research or review articles on any topic related to “Precision Oncology in Clinical Cancer Genomics”. This collection will cover cancer clinical decision making and care. I look forward to receiving your contributions.

Prof. Dr. Zodwa Dlamini
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. Genes is an international peer-reviewed open access monthly 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

  • biomarkers
  • genomics
  • transcriptomics
  • epigenomics
  • proteomics
  • drug resistance monitoring
  • screening
  • diagnosis
  • therapy
  • prognosis

Published Papers (1 paper)

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Research

19 pages, 1572 KiB  
Article
Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study
by Auhood Nassar, Abdel-Rahman N. Zekri, Mahmoud M. Kamel, Mostafa H. Elberry, Mai M. Lotfy, Mohamed G. Seadawy, Zeinab K. Hassan, Hany K. Soliman, Ahmed M. Lymona and Amira Salah El-Din Youssef
Genes 2023, 14(1), 106; https://doi.org/10.3390/genes14010106 - 29 Dec 2022
Cited by 3 | Viewed by 1986
Abstract
Background: Precision oncology has been increasingly used in clinical practice and rapidly evolving in the oncology field. Thus, this study was performed to assess the frequency of germline mutations in early and late onset familial breast cancer (BC) Egyptian patients using multi-gene panel [...] Read more.
Background: Precision oncology has been increasingly used in clinical practice and rapidly evolving in the oncology field. Thus, this study was performed to assess the frequency of germline mutations in early and late onset familial breast cancer (BC) Egyptian patients using multi-gene panel sequencing to better understand the contribution of the inherited germline mutations in BC predisposition. Moreover, to determine the actionable deleterious mutations associated with familial BC that might be used as biomarker for early cancer detection. Methods: Whole blood samples were collected from 101 Egyptian patients selected for BC family history, in addition to 50 age-matched healthy controls. A QIAseq targeted DNA panel (human BC panel) was used to assess the frequency of germline mutations. Results: A total of 58 patients (57.4%) out of 101 were found to have 27 deleterious germline mutations in 11 cancer susceptibility genes. Of them, 32 (31.6%) patients carried more than one pathogenic mutation and each one carried at least one pathogenic mutation. The major genes harboring the pathogenic mutations were: ATM, BRCA2, BRCA1, VHL, MSH6, APC, CHEK2, MSH2, MEN1, PALB2, and MUTYH. Thirty-one patients (30.6%) had BRCA2 mutations and twenty (19.8%) had BRCA1 mutations. Our results showed that exon 10 and exon 11 harbored 3 and 5 mutations, respectively, in BRCA1 and BRCA2 genes. Our analysis also revealed that the VHL gene significantly co-occurred with each of the BRCA2 gene (p = 0.003, event ratio 11/21), the MSH2 gene (p = 0.01, 4/10), the CHEK2 gene (p = 0.02, 4/11), and the MSH6 gene (p = 0.04, 4/12). In addition, the APC gene significantly co-occurred with the MSH2 gene (p = 0.01, 3/7). Furthermore, there was a significant mutually exclusive event between the APC gene and the ATM gene (p = 0.04, 1/36). Interestingly, we identified population specific germline mutations in genes showing potentials for targeted therapy to meet the need for incorporating precision oncology into clinical practice. For example, the mutations identified in the ATM, APC, and MSH2 genes. Conclusions: Multi-gene panel sequencing was used to detect the deleterious mutations associated with familial BC, which in turns mitigate the essential need for implementing next generation sequencing technologies in precision oncology to identify cancer predisposing genes. Moreover, identifying DNA repair gene mutations, with focus on non-BRCA genes, might serve as candidates for targeted therapy and will be increasingly used in precision oncology. Full article
(This article belongs to the Special Issue Precision Oncology in Clinical Cancer Genomics)
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