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Predictive Medicine at Genomic Level

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 11132

Special Issue Editors

1. Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy
2. CEINGE-Biotecnologie Avanzate s.c.ar.l., Naples, Italy
Interests: predictive medicine; germline gene alterations; disease-predisposition genomics
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini, 5, 80131 Naples, Italy
Interests: precision medicine; personalized medicine

Special Issue Information

Dear Colleagues,

Predictive medicine is a field of medicine that uses genomic information to predict human health, human disease, and predisposition to a given disease before the appearance of symptoms and signs. While a decade or so ago, predictive medicine was taking its first faltering steps, today, thanks to technological advances, predictive and personalized medicine is fast becoming a reality. Indeed, next-generation sequencing-based approaches to DNA sequencing and their use in predictive medicine are now helping researchers and physicians to understand, a priori, possible connections between the genotype and phenotype of diseases (especially oncological and other complex diseases). Molecular genetic testing, particularly that using target panels for germline detection of gene variants, is now the elective strategy with which to detect oncology predisposition, cardiovascular risk, and neonatal and childhood diseases. The advent of multigene panel testing was a technological milestone in the quest for an early diagnosis. Indeed, multigene panel testing can help to identify a disease, albeit only in terms of risk. It is also used to implement prognostic stratification algorithms, and to select the therapeutic measures to be taken, particularly in case of a plurality of possible causes. Lastly, wider genomic systems (exome and worldwide genome analysis) are being evaluated to determine their potential application in the field of genetic diseases predisposing alterations/variants. Studies are underway to identify drugs that act directly on the pathogenic mechanisms of a specific mutation, for affected subjects and their family members, and are thus an important tool to reduce the risk of mortality and morbidity for each individual.

Prof. Francesco Salvatore
Dr. Marcella Nunziato
Guest Editors

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Keywords

  • predictive medicine
  • genomic disease-risk assessment
  • disease-predisposition genomics
  • hereditary disease predisposition
  • germline multigene panels
  • germline and drivers cancer mutations
  • different type of cancers of the same tissue/organ and their genomic hereditary predisposition

Published Papers (2 papers)

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Review

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19 pages, 923 KiB  
Review
Molecular Epidemiology of the Main Druggable Genetic Alterations in Non-Small Cell Lung Cancer
by Sara S. Fois, Panagiotis Paliogiannis, Angelo Zinellu, Alessandro G. Fois, Antonio Cossu and Giuseppe Palmieri
Int. J. Mol. Sci. 2021, 22(2), 612; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22020612 - 09 Jan 2021
Cited by 69 | Viewed by 9447
Abstract
Lung cancer is the leading cause of death for malignancy worldwide. Its molecular profiling has enriched our understanding of cancer initiation and progression and has become fundamental to provide guidance on treatment with targeted therapies. Testing the presence of driver mutations in specific [...] Read more.
Lung cancer is the leading cause of death for malignancy worldwide. Its molecular profiling has enriched our understanding of cancer initiation and progression and has become fundamental to provide guidance on treatment with targeted therapies. Testing the presence of driver mutations in specific genes in lung tumors has thus radically changed the clinical management and outcomes of the disease. Numerous studies performed with traditional sequencing methods have investigated the occurrence of such mutations in lung cancer, and new insights regarding their frequency and clinical significance are continuously provided with the use of last generation sequencing technologies. In this review, we discuss the molecular epidemiology of the main druggable genetic alterations in non-small cell lung cancer, namely EGFR, KRAS, BRAF, MET, and HER2 mutations or amplification, as well as ALK and ROS1 fusions. Furthermore, we investigated the predictive impact of these alterations on the outcomes of modern targeted therapies, their global prognostic significance, and their mutual interaction in cases of co-occurrence. Full article
(This article belongs to the Special Issue Predictive Medicine at Genomic Level)
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8 pages, 1158 KiB  
Case Report
A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis
by Marcella Nunziato, Anna Balato, Anna Ruocco, Valeria D’Argenio, Roberta Di Caprio, Nicola Balato, Fabio Ayala and Francesco Salvatore
Int. J. Mol. Sci. 2023, 24(5), 4743; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms24054743 - 01 Mar 2023
Viewed by 1132
Abstract
Psoriasis is a chronic multifactorial skin disorder with an immune basis. It is characterized by patches of skin that are usually red, flaky and crusty, and that often release silvery scales. The patches appear predominantly on the elbows, knees, scalp and lower back, [...] Read more.
Psoriasis is a chronic multifactorial skin disorder with an immune basis. It is characterized by patches of skin that are usually red, flaky and crusty, and that often release silvery scales. The patches appear predominantly on the elbows, knees, scalp and lower back, although they may also appear on other body areas and severity may be variable. The majority of patients (about 90%) present small patches known as “plaque psoriasis”. The roles of environmental triggers such as stress, mechanical trauma and streptococcal infections are well described in psoriasis onset, but much effort is still needed to unravel the genetic component. The principal aim of this study was to use a next-generation sequencing technologies-based approach together with a 96 customized multigene panel in the attempt to determine if there are germline alterations that can explain the onset of the disease, and thus to find associations between genotypes and phenotypes. To this aim, we analyzed a family in which the mother showed mild psoriasis, and her 31-year-old daughter had suffered from psoriasis for several years, whereas an unaffected sister served as a negative control. We found variants already associated directly to psoriasis in the TRAF3IP2 gene, and interestingly we found a missense variant in the NAT9 gene. The use of multigene panels in such a complex pathology such as psoriasis can be of great help in identifying new susceptibility genes, and in being able to make early diagnoses especially in families with affected subjects. Full article
(This article belongs to the Special Issue Predictive Medicine at Genomic Level)
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