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Next-Generation Sequencing Approaches for the Study of Hereditary Tumors
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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 June 2024) | Viewed by 1768

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 develo** 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 mdpi.longhoe.net 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

Published Papers (2 papers)

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Review

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
Viewed by 333
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 develo** 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)
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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
Viewed by 869
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)
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