A5033066497- Cutaneous Melanoma Detection and Management
- Melanoma and MAPK Pathways
- Cancer Genomics and Diagnostics
- Immunotherapy and Immune Responses
- Computational Drug Discovery Methods
- melanin and skin pigmentation
- Occupational and environmental lung diseases
- CRISPR and Genetic Engineering
- DNA Repair Mechanisms
- Medical Imaging and Pathology Studies
- Bacillus and Francisella bacterial research
- Genetic and rare skin diseases.
- Genomics and Rare Diseases
- Cellular Mechanics and Interactions
- Congenital Diaphragmatic Hernia Studies
- Epigenetics and DNA Methylation
- Mast cells and histamine
- CAR-T cell therapy research
- Telomeres, Telomerase, and Senescence
- Genomics and Chromatin Dynamics
- Viral-associated cancers and disorders
- Tracheal and airway disorders
- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Biomedical Text Mining and Ontologies
Istituto Oncologico Veneto
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2011-2024
Azienda Ospedaliera Universitaria Integrata Verona
2015
Genomics (United Kingdom)
2014
University of Padua
2011
Abstract Melanoma heterogeneity is a hurdle in metastatic disease management. Although the advent of targeted therapy has significantly improved patient outcomes, occurrence resistance makes monitoring tumor genetic landscape mandatory. Liquid biopsy could represent an important biomarker for real-time tracing evolution. Thus, we aimed to correlate liquid dynamics with treatment response and progression by devising multiplatform approach applied longitudinal melanoma monitoring. We conceived...
Abstract Metastatic melanoma is characterized by complex genomic alterations, including a high rate of mutations in driver genes and widespread deletions amplifications encompassing various chromosome regions. Among them, 7 frequently gained BRAF-mutant melanoma, inducing mutant allele–specific imbalance. Although BRAF amplification known mechanism acquired resistance to therapy with MAPK inhibitors, it still unclear if copy-number variation allele imbalance at baseline can be associated...
The incidence of cutaneous melanoma is increasing in Italy, parallel with the implementation gene panels. Therefore, a revision national genetic assessment criteria for hereditary may be needed. aim this study was to identify predictors susceptibility variants largest prospective cohort Italian high-risk cases studied date.From 25 centers, we recruited 1044 family members and germline sequenced 940 index through shared panel, which included following genes: CDKN2A, CDK4, BAP1, POT1, ACD,...
Resistance is a major challenge in the management of mitogen-activated protein kinase inhibitor (MAPKi)-treated metastatic melanoma. Tumor genetic alterations can cause MAPK pathway reactivation, leading to lack response and poor outcome. Characterization mutational profile patients with melanoma might be crucial for patient-tailored treatment choices. Mutations promoter region telomerase reverse transcriptase gene (TERTprom) lead increased TERT expression activity are frequent BRAFV600...
Acral melanoma (AM) is a rare and aggressive subtype of affecting the palms, soles, nail apparatus with similar incidence among different ethnicities. AM unrelated to ultraviolet radiation has low mutation burden but frequent chromosomal rearrangements gene amplifications. Next generation sequencing 33 genes somatic copy number variation (CNV) analysis genome-wide single nucleotide polymorphism arrays were performed in order molecularly characterize 48 primary AMs Italian patients...
Abstract Background Most of large epidemiological studies on melanoma susceptibility have been conducted fair skinned individuals (US, Australia and Northern Europe), while Southern European populations, characterized by high UV exposure dark‐skinned individuals, are underrepresented. Objectives We report a comprehensive pooled analysis established high‐ intermediate‐penetrance genetic variants clinical characteristics Mediterranean families from the MelaNostrum Consortium. Methods Pooled...
CDKN2A codes for two oncosuppressors by alternative splicing of first exons: p16INK4a and p14ARF. Germline mutations are found in about 40% melanoma-prone families, most them missense mainly affecting p16INK4a. A growing number variants uncertain significance (VUS) being identified but, unless their pathogenic role can be demonstrated, they cannot used identification carriers at risk. Predicting the effect these VUS either a "standard" silico approach, or functional tests alone, is rather...
Correct phenotypic interpretation of variants unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity the next-generation sequencing era. The Critical Assessment Genome Interpretation (CAGI) experiment aims to test and define state art genotype-phenotype interpretation. Here, we present assessment CAGI p16INK4a challenge. Participants were asked predict effect on cellular proliferation 10 tumor suppressor, cyclin-dependent kinase...
A polygenic inheritance involving high, medium and low penetrance genes has been suggested for melanoma susceptibility in adults, but genetic information is scarce paediatric patients.We aim to analyse the major high intermediate risk genes, CDKN2A, CDK4, POT1, MITF MC1R, a large multicentre cohort of Italian children adolescents order explore context reveal potential differences heritability between adolescents.One-hundred-twenty-three patients (<21 years) from nine centres were analysed...
Germline mutations in the tumor suppressor gene BRCA1-associated protein-1 (BAP1) lead to BAP1 predisposition syndrome (BAP1-TPDS), characterized by high susceptibility several types, chiefly melanoma, mesothelioma, renal cell carcinoma, and basal carcinoma. Here, we present results of our ten-year experience molecular diagnosis BAP1-TPDS, along with a clinical update cascade genetic testing previously reported BAP1-TPDS patients their relatives. Specifically, sequenced germline DNA samples...
Several pieces of evidence indicate that a complex relationship exists between constitutional telomere length (TL) and the risk cutaneous melanoma. Although general perception is longer telomeres increase melanoma risk, some studies do not support this association. We hypothesize discordant data are due to characteristics studied populations.To evaluate association TL with familial sporadic melanoma.TL was measured by multiplex quantitative polymerase chain reaction in leukocytes from 310...
Cutaneous melanoma is a life-threatening skin cancer. Its incidence rapidly increasing, and early diagnosis the main factor able to improve its poor prognosis. Toll-like receptors (TLRs) are transmembrane glycoproteins that recognize pathogen- damage-associated molecular patterns, against which TLRs activate innate immune response initiate adaptive response. Genetic variations of these may alter system, involved in evolution susceptibility various diseases, including The aim present study...
Many genetic alterations, including predisposing or somatic mutations, may contribute toward the development of melanoma. Although CDKN2A and CDK4 are high-penetrance genes for melanoma, MC1R is a low-penetrance gene that has been associated most consistently with disease. Moreover, BRAF frequently somatically altered oncogene validated therapeutic target in This paper reports case multiple primary melanoma germline mutation, variant, mutation nine out 10 melanomas, indicating common...
1519 Background: DICER1 is a key endoribonuclease in the microRNA pathway that modulates gene expression. Germline loss of function variants DICER1, first found pleuropulmonary blastoma, have been subsequently linked to variety cancerous (and non) conditions referred as syndrome. In 2018, Italian Society Human Genetics launched an initiative aimed at establishing national registry germline sequence variants. Methods: Centers involved genetic testing for cancer predisposition were asked...
<div>Abstract<p>Metastatic melanoma is characterized by complex genomic alterations, including a high rate of mutations in driver genes and widespread deletions amplifications encompassing various chromosome regions. Among them, 7 frequently gained <i>BRAF</i>-mutant melanoma, inducing mutant allele–specific imbalance. Although <i>BRAF</i> amplification known mechanism acquired resistance to therapy with MAPK inhibitors, it still unclear if copy-number...
<div>Abstract<p>Metastatic melanoma is characterized by complex genomic alterations, including a high rate of mutations in driver genes and widespread deletions amplifications encompassing various chromosome regions. Among them, 7 frequently gained <i>BRAF</i>-mutant melanoma, inducing mutant allele–specific imbalance. Although <i>BRAF</i> amplification known mechanism acquired resistance to therapy with MAPK inhibitors, it still unclear if copy-number...