Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
2.9
2.8
Journals
CIMB
Special Issues
Next-Generation Sequencing Approaches for the Study of Hereditary Tumors
cimb-logo
Submit to CIMB Review for CIMB Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Next-Generation Sequencing Approaches for the Study of Hereditary Tumors

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

Deadline for manuscript submissions: closed (30 September 2024) | Viewed by 4871

Special Issue Editor

Dr. Gianluca Tedaldi

E-Mail Website
Guest Editor
Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) “Dino Amadori”, 47014 Meldola, Italy
Interests: hereditary cancer; next-generation sequencing; cancer genetics; cancer epigenetics; molecular characterization

Special Issue Information

Dear Colleagues,

The global increase in cancer incidence and mortality is due to many reasons, in particular to environmental and behavioral factors associated with socioeconomic development. However, genetics is one of the main factors that can influence the development of cancer. Germline mutations in highly penetrant cancer susceptibility genes are observed in 5%–10% of all cancers. The main genetic syndromes are characterized by an increased risk of developing breast, ovarian, colorectal, gastric, pancreatic, melanoma, endometrial and prostate cancers; however, there are also other rare disorders linked to a predisposition to rare tumors. Hereditary cancers have been studied for a long time using different techniques. Traditional methods for the detection of mutations in cancer predisposition genes have been combined over time with new molecular techniques, such as next-generation sequencing. As a result of these advances, the number of genes involved in cancer predisposition has dramatically increased in recent years, highlighting the need for faster and more accurate methodologies. The aim of this collection is to provide an overview of the different molecular approaches that can be used in the field of research and diagnostics to study different forms of hereditary cancer.

Dr. Gianluca Tedaldi
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. 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

  • hereditary tumors
  • cancer predisposition
  • next-generation sequencing
  • cancer genetics
  • cancer risk

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 (4 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

18 pages, 810 KiB  
Article
Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing
by Valentina Rocca, Elisa Lo Feudo, Francesca Dinatolo, Serena Marianna Lavano, Anna Bilotta, Rosario Amato, Lucia D’Antona, Francesco Trapasso, Francesco Baudi, Emma Colao, Nicola Perrotti, Francesco Paduano and Rodolfo Iuliano
Curr. Issues Mol. Biol. 2024, 46(11), 13003-13020; https://doi.org/10.3390/cimb46110775 - 15 Nov 2024
Viewed by 426
Abstract
Hereditary breast cancer accounts for 5–10% of all cases, with pathogenic variants in BRCA1/2 and other susceptibility genes playing a crucial role. This study elucidates the prevalence and spectrum of germline variants in 13 cancer predisposition genes among high—risk hereditary breast cancer patients [...] Read more.
Hereditary breast cancer accounts for 5–10% of all cases, with pathogenic variants in BRCA1/2 and other susceptibility genes playing a crucial role. This study elucidates the prevalence and spectrum of germline variants in 13 cancer predisposition genes among high—risk hereditary breast cancer patients from Southern Italy. We employed next-generation sequencing (NGS) to analyze 254 individuals selected through genetic counseling. Pathogenic or likely pathogenic variants were identified in 13% (34/254) of patients, with 54% of these variants occurring in non-BRCA1/2 genes. Notably, we observed a recurrent BRCA1 c.4964_4982del founder mutation, underscoring the importance of population-specific genetic screening. The spectrum of variants extended beyond BRCA1/2 to include PALB2, ATM, TP53, CHEK2, and RAD51C, highlighting the genetic heterogeneity of breast cancer susceptibility. Variants of uncertain significance were detected in 20% of patients, emphasizing the ongoing challenge of variant interpretation in the era of multi-gene panel testing. These findings not only enhance our understanding of the genetic landscape of breast cancer in Southern Italy but also provide a foundation for developing more targeted, population-specific approaches to genetic testing and counseling, ultimately contributing to the advancement of precision medicine in oncology. Full article
(This article belongs to the Special Issue Next-Generation Sequencing Approaches for the Study of Hereditary Tumors)
►▼ Show Figures

Graphical abstract

18 pages, 4292 KiB  
Article
Integrated RNA Sequencing Analysis Revealed Early Gene Expression Shifts Associated with Cancer Progression in MCF-7 Breast Cancer Cells Cocultured with Adipose-Derived Stem Cells
by Minh Ngoc Vu, Hoang Duc Le, Thi Tien Vu, Trung Nam Nguyen, Hoang Ha Chu and Van Ngoc Bui
Curr. Issues Mol. Biol. 2024, 46(11), 11817-11834; https://doi.org/10.3390/cimb46110702 - 23 Oct 2024
Viewed by 652
Abstract
Breast cancer remains a prevalent global health challenge, with tumor-removal surgeries being among the most common treatments but often leading to aesthetic defects. Adipose-derived stem cell (ADSC)-enriched fat grafting in breast reconstruction offers promising therapeutic benefits. However, concerns about its oncological safety persist, [...] Read more.
Breast cancer remains a prevalent global health challenge, with tumor-removal surgeries being among the most common treatments but often leading to aesthetic defects. Adipose-derived stem cell (ADSC)-enriched fat grafting in breast reconstruction offers promising therapeutic benefits. However, concerns about its oncological safety persist, particularly regarding the potential risks of promoting cancer recurrence. This study investigated the effects of ADSCs on breast cancer progression by coculturing ADSCs with the MCF-7 breast cancer cell line for a short cell cultivation period of 3 days. We performed an RNA-seq analysis to identify significant transcriptomic changes in cocultured MCF-7 cells and carried out functional enrichment analyses to uncover key biological pathways influenced by ADSCs. Our findings revealed that transcriptomic alterations in MCF-7 cells are linked to aggressive cancer traits, including the upregulation of epithelial–mesenchymal transition (EMT) and the HIF-1 signaling pathway, which indicate a shift toward aerobic glycolysis. Some of the observed gene expression changes also correlated with relapse risk and mortality. These findings underscore the need for further research to explore the implications of these genes and pathways in driving aggressive cancer phenotypes and assess the safety of ADSCs in clinical settings. Full article
(This article belongs to the Special Issue Next-Generation Sequencing Approaches for the Study of Hereditary Tumors)
►▼ Show Figures

Figure 1

Review

Jump to: Research

32 pages, 3176 KiB  
Review
Hereditary Gastrointestinal Tumor Syndromes: When Risk Comes with Your Genes
by María Jesús Fernández Aceñero and Cristina Díaz del Arco
Curr. Issues Mol. Biol. 2024, 46(7), 6440-6471; https://doi.org/10.3390/cimb46070385 - 26 Jun 2024
Cited by 1 | Viewed by 1547
Abstract
Despite recent campaigns for screening and the latest advances in cancer therapy and molecular biology, gastrointestinal (GI) neoplasms remain among the most frequent and lethal human tumors. Most GI neoplasms are sporadic, but there are some well-known familial syndromes associated with a significant [...] Read more.
Despite recent campaigns for screening and the latest advances in cancer therapy and molecular biology, gastrointestinal (GI) neoplasms remain among the most frequent and lethal human tumors. Most GI neoplasms are sporadic, but there are some well-known familial syndromes associated with a significant risk of developing both benign and malignant GI tumors. Although some of these entities were described more than a century ago based on clinical grounds, the increasing molecular information obtained with high-throughput techniques has shed light on the pathogenesis of several of them. The vast amount of information gained from next-generation sequencing has led to the identification of some high-risk genetic variants, although others remain to be discovered. The opportunity for genetic assessment and counseling in these families has dramatically changed the management of these syndromes, though it has also resulted in significant psychological distress for the affected patients, especially those with indeterminate variants. Herein, we aim to summarize the most relevant hereditary cancer syndromes involving the stomach and colon, with an emphasis on new molecular findings, novel entities, and recent changes in the management of these patients. Full article
(This article belongs to the Special Issue Next-Generation Sequencing Approaches for the Study of Hereditary Tumors)
►▼ Show Figures

Figure 1

15 pages, 1257 KiB  
Review
Radiogenomics and Texture Analysis to Detect von Hippel–Lindau (VHL) Mutation in Clear Cell Renal Cell Carcinoma
by Federico Greco, Valerio D’Andrea, Bruno Beomonte Zobel and Carlo Augusto Mallio
Curr. Issues Mol. Biol. 2024, 46(4), 3236-3250; https://doi.org/10.3390/cimb46040203 - 8 Apr 2024
Cited by 2 | Viewed by 1515
Abstract
Radiogenomics, a burgeoning field in biomedical research, explores the correlation between imaging features and genomic data, aiming to link macroscopic manifestations with molecular characteristics. In this review, we examine existing radiogenomics literature in clear cell renal cell carcinoma (ccRCC), the predominant renal cancer, [...] Read more.
Radiogenomics, a burgeoning field in biomedical research, explores the correlation between imaging features and genomic data, aiming to link macroscopic manifestations with molecular characteristics. In this review, we examine existing radiogenomics literature in clear cell renal cell carcinoma (ccRCC), the predominant renal cancer, and von Hippel–Lindau (VHL) gene mutation, the most frequent genetic mutation in ccRCC. A thorough examination of the literature was conducted through searches on the PubMed, Medline, Cochrane Library, Google Scholar, and Web of Science databases. Inclusion criteria encompassed articles published in English between 2014 and 2022, resulting in 10 articles meeting the criteria out of 39 initially retrieved articles. Most of these studies applied computed tomography (CT) images obtained from open source and institutional databases. This literature review investigates the role of radiogenomics, with and without texture analysis, in predicting VHL gene mutation in ccRCC patients. Radiogenomics leverages imaging modalities such as CT and magnetic resonance imaging (MRI), to analyze macroscopic features and establish connections with molecular elements, providing insights into tumor heterogeneity and biological behavior. The investigations explored diverse mutations, with a specific focus on VHL mutation, and applied CT imaging features for radiogenomic analysis. Moreover, radiomics and machine learning techniques were employed to predict VHL gene mutations based on CT features, demonstrating promising results. Additional studies delved into the relationship between VHL mutation and body composition, revealing significant associations with adipose tissue distribution. The review concludes by highlighting the potential role of radiogenomics in guiding targeted and selective therapies. Full article
(This article belongs to the Special Issue Next-Generation Sequencing Approaches for the Study of Hereditary Tumors)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-4
Back to TopTop