Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.2
3.9
Journals
Biomedicines
Special Issues
Next-Generation Sequencing Technologies in Solid Tumor
share announcement

Next-Generation Sequencing Technologies in Solid Tumor

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cancer Biology and Oncology".

Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 1821

Special Issue Editor

Dr. Francesca Duraturo

E-Mail Website
Guest Editor
Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, Italy
Interests: RNAseq; DNA sequencing; interpretation of VUS; hereditary solid tumors; bioinformatic approaches
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The application of next-generation sequencing (NGS) technologies in investigations of solid tumors has allowed us to obtain the maximum genomic evaluation of the tumor. Furthermore, the application of NGS technologies on the genome/exome of affected subjects and with a positive family history of cancer has allowed the identification of a large number of genes responsible for familial/hereditary forms of cancer. NGS approaches involve DNA and RNA analysis. DNA sequencing deals with revealing nucleotide variants on a selection of genes of interest for a specific tumor area. RNA sequencing allows detection of alternative genetic transcripts, post-transcriptional modifications, gene fusion, single nucleotide mutations/polymorphisms, small and long non-coding RNAs, and changes in gene expression. Most of the applications are in the field of cancer research, but NGS technology is also widely used in molecular diagnostics.

In this Special Issue, we would like to collect recent diagnostic/predictive clinical findings obtained from NGS applications to various solid tumors and on the genome/germinal exome of subjects affected by familial/hereditary cancers. Furthermore, since the amount of NGS data produced is very large and their interpretation is very complex, we would like to discuss the possible advantages that could be obtained by considering new bioinformatics approaches and/or functional gene analyses that could be useful for a correct diagnostic evaluation of cancer, and confirmatory experiments are necessary.

Dr. Francesca Duraturo
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. Biomedicines 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

  • RNAseq
  • DNA sequencing
  • interpretation of VUS
  • hereditary solid tumors
  • bioinformatic approaches

Published Papers (1 paper)

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

Research

11 pages, 958 KiB  
Article
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy
by Andrea Montori, Aldo Germani, Mario Ferri, Annalisa Milano, Teresa Valentina Ranalli, Maria Piane and Emanuela Pilozzi
Biomedicines 2022, 10(12), 3247; https://doi.org/10.3390/biomedicines10123247 - 13 Dec 2022
Viewed by 1448
Abstract
Background: Neoadjuvant chemo-radiotherapy (nCRT) represents the standard of care for locally advanced rectal cancer (LARC); however, there exists no biomarker that can predict the cancer’s response to treatment as less than 20% of patients experience pathological complete response (pCR). Ionizing radiations induce double [...] Read more.
Background: Neoadjuvant chemo-radiotherapy (nCRT) represents the standard of care for locally advanced rectal cancer (LARC); however, there exists no biomarker that can predict the cancer’s response to treatment as less than 20% of patients experience pathological complete response (pCR). Ionizing radiations induce double strand breaks (DSBs) and trigger a DNA damage response (DDR) involving ATM, ATR, and the MRN complex (MRE11, Rad50, and NBS1). In this study, we performed an extensive mutational analysis of the genes involved in the DDR pathway in LARC patients who have undergone nCRT. Methods: 13 LARC patients with pCR and 11 LARC patients with partial response (pPR) were investigated using a NGS dedicated panel, designed for formalin-fixed paraffin-embedded (FFPE) samples, containing ATR, ATM, and MRE11-RAD50-NBN genes. The identified variants were classified according to guidelines’ recommendations. Results: Eight non-benign variants, six of which were observed in 3 (23%) out of 13 pCR patients, were identified. In particular, a pCR patient carried out a pathogenetic frameshift mutation in exon 21 of the RAD50 gene. The two remaining non-benign missense variants were found in 2 (18%) out of 11 patients in the pPR group. Conclusions: Our data show that the genes involved in the Homologous Recombination (HR) pathway are rarely mutated in LARC; however, given the identification of a missense mutation in RAD 50 in one case of pCR, it could be worth exploring its potential role as a biomarker in larger series. Full article
(This article belongs to the Special Issue Next-Generation Sequencing Technologies in Solid Tumor)
►▼ Show Figures

Figure 1

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