Genetic Testing for Cancer Susceptibility

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 15 May 2024 | Viewed by 1482

Special Issue Editors


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Guest Editor
Department of Health Science, Magna Græcia University of Catanzaro, Catanzaro, Italy
Interests: inherited cancer susceptibility and molecular analysis

E-Mail Website
Guest Editor
Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy
Interests: gene variants; functional studies; signal transduction; gene regulation
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Special Issue Information

Dear Colleagues,

Research advances combined with improvements in technologies are deeply modifying the knowledges of cancer susceptibility, generating, simultaneously, news and unexpected scenarios.

Different challenges are now represented by the evidence of overlapping genetic syndromes, findings of incidental variants, and difficulties in correlations between variants and interpretations. These have a large impact on risk estimate, prognosis, and tailored therapies outcomes.

This Special Issue arises from the need for meaningful risk data on genetic susceptibility obtained by cutting-edge research to improve the clinical interpretation of germline multi-gene panel testing.

Research articles, reviews, as well as short communications are invited to submit to this Special Issue. Research topics of interest include, but are not limited to:

  • Data from multigenic panel applied in real world;
  • Functional validation of phenotype-specific genetic variations through in vitro and in vivo models;
  • Machine learning approaches in the prediction of pathogenic variants;
  • Reinterpretation/reclassification of gene variants;
  • Innovative methodologies such as liquid biopsy;
  • Inherited disorders studies useful to understand pathological pathways in oncogenesis and discover new clinical biomarkers or actionable alleles for precision medicine;
  • Population-based studies of founder mutations in specified populations or ethnicities.

Dr. Francesco Baudi
Dr. Rodolfo Iuliano
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. 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

  • hereditary cancer predisposition syndromes
  • cancer predisposition genes
  • hereditary cancer risk
  • precision medicine for cancer syndromes
  • germline panel testing
  • pathogenic variants

Published Papers (1 paper)

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Review

11 pages, 898 KiB  
Review
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome
by Virginia Andreotti, Irene Vanni, Lorenza Pastorino, Paola Ghiorzo and William Bruno
Genes 2024, 15(1), 104; https://doi.org/10.3390/genes15010104 - 16 Jan 2024
Viewed by 1201
Abstract
The Protection of Telomere 1 (POT1) gene was identified as a melanoma predisposition candidate nearly 10 years ago. Thereafter, various cancers have been proposed as associated with germline POT1 variants in the context of the so-called POT1 Predisposition Tumor Syndrome (POT1–TPD). [...] Read more.
The Protection of Telomere 1 (POT1) gene was identified as a melanoma predisposition candidate nearly 10 years ago. Thereafter, various cancers have been proposed as associated with germline POT1 variants in the context of the so-called POT1 Predisposition Tumor Syndrome (POT1–TPD). While the key role, and related risks, of the alterations in POT1 in melanoma are established, the correlation between germline POT1 variants and the susceptibility to other cancers partially lacks evidence, due also to the rarity of POT1–TPD. Issues range from the absence of functional or segregation studies to biased datasets or the need for a revised classification of variants. Furthermore, a proposal of a surveillance protocol related to the cancers associated with POT1 pathogenic variants requires reliable data to avoid an excessive, possibly unjustified, burden for POT1 variant carriers. We propose a critical perspective regarding data published over the last 10 years that correlate POT1 variants to various types of cancer, other than cutaneous melanoma, to offer food for thought for the specialists who manage cancer predisposition syndromes and to stimulate a debate on the grey areas that have been exposed. Full article
(This article belongs to the Special Issue Genetic Testing for Cancer Susceptibility)
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