cimb-logo

Journal Browser

Journal Browser

Linking Genomic Changes with Cancer in the NGS Era, 2nd Edition

A special issue of Current Issues in Molecular Biology (ISSN 1467-3045). This special issue belongs to the section "Bioinformatics and Systems Biology".

Deadline for manuscript submissions: 28 February 2025 | Viewed by 991

Special Issue Editors


E-Mail Website
Guest Editor
Department of Human Anatomy and Histology, Faculty of Medicine, University of Zaragoza, 50009 Zaragoza, Spain
Interests: pathology; histology; cancer; biomakers; molecular biology; cytology

E-Mail Website
Guest Editor
Cancer Genetics Group, IPO Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto), 4200-072 Porto, Portugal
Interests: prostate cancer; inherited cancer predisposition; DNA-repair; molecular tumor subtypes; targeted cancer therapeutics; CRISPR/Cas9 gene editing; functional assays
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The arrival and evolution of next-generation sequencing (NGS) technology has enlarged our capacity to read genetic code in-depth, beginning a new era in the identification of disease-causing genetic changes. While our ability to “read” individual genetic changes has dramatically increased, the “translationability” of the identified changes is complex, and the establishment of a new driver gene/variant constitutes a NGS-based genetic screening bottleneck. This is particularly true in cancer, where only a very small fraction of the 10–20% of the cancers associated with familial aggregation have a known underlying genetic cause. Moreover, the profile of genomic changes in the 80–90% of the cancers arising sporadically is highly heterogeneous, making it difficult to distinguish driving, secondary and progression-associated genomic variation.     

In this Special Issue, we invite researchers to submit their work highlighting or discarding the identification of new genes/variants as a cause of cancer development or progression. Evidence may include case–control studies, segregation analysis, gene/variant specific gene editing (CRISPR/Cas9 or other), protein structure analysis, functional studies, or other approaches considered relevant for validation of a gene–disease association.

You can read the publications in the first volume of our Special Issue here:
https://www.mdpi.com/journal/cimb/special_issues/genomic_cancer_

Prof. Dr. Javier Azúa-Romeo
Dr. Paula Paulo
Guest Editors

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. Current Issues in Molecular Biology 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 2200 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

  • next-generation sequencing (NGS)
  • genetic variation
  • driver gene
  • functional validation
  • gene editing
  • cancer

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Research

11 pages, 751 KiB  
Article
Novel Mutations in AKT1 Gene in Prostate Cancer Patients in Jordan
by Ala’a Alasmar, Zina Al-Alami, Sima Zein, Asmaa Al-Smadi, Samir Al Bashir, Mohammed S. Alorjani, Raed M. Al-Zoubi and Mazhar Al Zoubi
Curr. Issues Mol. Biol. 2024, 46(9), 9856-9866; https://doi.org/10.3390/cimb46090586 - 4 Sep 2024
Viewed by 856
Abstract
The AKT1 oncogene is related to various cancers due to its critical role in the PIC3CA/AKT1 pathway; however, most of the studies screened the hotspot mutation AKT1 (E17K) with various incidences. Low frequency or lack of AKT1 (E17K) mutation was reported in prostate [...] Read more.
The AKT1 oncogene is related to various cancers due to its critical role in the PIC3CA/AKT1 pathway; however, most of the studies screened the hotspot mutation AKT1 (E17K) with various incidences. Low frequency or lack of AKT1 (E17K) mutation was reported in prostate cancer (PC) patients. This study aims to explore genetic alterations in the AKT1 PH domain by extending the sequencing to include AKT1 gene exons 3 and 4. Genomic DNA was extracted from 84 Formalin-Fixed Paraffin-Embedded samples of PC patients in Jordan, and then subjected to PCR and sequencing for the targeted exons. This study revealed the presence of two novel mutations (N53Y and Q59K) and a high frequency of mutations in exon 4, with a lack of mutations in the E17K hotspot. Nine missense and two synonymous mutations were detected in exon 4 (Phe27Tyr, Phe27Leu, Ala58Thr, Ser56Phe, Arg41Trp, Phe35Leu, Asp32Glu, Phe35Tyr, and Gln43Lys) and (Ser56 and Glu40), respectively. Two synonymous mutations were detected in exon 3 (Leu12 and Ser2). It is concluded that there is a high frequency of AKT1 mutation in PC patients in Jordan with two novel missense mutations in the Pleckstrin homology (PH) domain. E17K hotspot mutation was not detected in any tested samples, which underlined the significant role of mutations in other AKT1 exons in PC development. Full article
(This article belongs to the Special Issue Linking Genomic Changes with Cancer in the NGS Era, 2nd Edition)
Show Figures

Figure 1

Back to TopTop