A5049759990- Cutaneous Melanoma Detection and Management
- Cancer Genomics and Diagnostics
- Melanoma and MAPK Pathways
- Viral-associated cancers and disorders
- Lymphoma Diagnosis and Treatment
- melanin and skin pigmentation
- Cancer-related Molecular Pathways
- Skin Protection and Aging
- Immunotherapy and Immune Responses
- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Immune Cell Function and Interaction
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Computational Drug Discovery Methods
- Chronic Lymphocytic Leukemia Research
- Cutaneous lymphoproliferative disorders research
- Allergic Rhinitis and Sensitization
- HIV Research and Treatment
- Nutrition, Genetics, and Disease
- Cancer Immunotherapy and Biomarkers
- RNA modifications and cancer
- Cell death mechanisms and regulation
- Genomic variations and chromosomal abnormalities
- Neuroblastoma Research and Treatments
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2025
Istituto Oncologico Veneto
2016-2025
Azienda Ospedaliera Universitaria Integrata Verona
2015
Genomics (United Kingdom)
2014
Sidney Kimmel Cancer Center
2008
IFOM
2007
European Institute of Oncology
2007
Azienda Ospedaliera di Padova
1997-2006
Giuliani (Italy)
2006
University of Padua
1993-2005
A single-nucleotide polymorphism (SNP) in the promoter of MDM2 gene, SNP309 (a T-->G change), was recently implicated early onset cancer individuals with Li-Fraumeni syndrome and sporadic soft-tissue sarcoma. induces an increase level Mdm2 protein, which causes attenuation p53 pathway. To investigate effect this colorectal pathogenesis, we genotyped 153 patients who were randomly selected from among 330 consecutive stratified according to mutation status age at diagnosis, for alleles...
Purpose: Melanoma represents an important public health problem, due to its high case-fatality rate. Identification of individuals at risk would be major interest improve early diagnosis and ultimately survival. The aim this study was evaluate whether MC1R variants predicted melanoma independently at-risk phenotypic characteristics. Materials methods: Data were collected within international collaboration – the M-SKIP project. present pooled analysis included data on 3,830 single, primary,...
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...
Mechanisms of tumor development were studied in SCID mice injected with human lymphoid cells from Epstein-Barr virus-positive (EBV+) donors. About 80% peripheral blood mononuclear cell (PBMC)-injected animals developed a lymphoproliferative disease associated oligoclonal EBV+ tumors B origin. No change rate occurred when monocyte-depleted PBMC inoculated. purified injected. was also prevented most cases PBMC-injected treated agents that prevent T activation, such as cyclosporin A. Both CD4+...
Objective Patients infected with HIV-1 are at high risk of developing Epstein–Barr virus (EBV)-associated lymphoproliferative disorders. This study evaluated the impact highly active antiretroviral therapy (HAART) on EBV infection. Methods To measure content in peripheral blood lymphocytes (PBL) and plasma, we set up a quantitative analysis using real-time PCR. latent membrane protein 1 (LMP1) expression was determined by reverse transcriptase-PCR. Results levels were 33 HIV-1-...
A large body of evidence strongly suggests that the p53 tumor suppressor pathway is central in reducing cancer frequency vertebrates. The protein product haploinsufficient mouse double minute 2 (MDM2) oncogene binds to and inhibits protein. Recent studies human genetic variants MDM2 have shown single nucleotide polymorphisms (SNPs) can affect signaling, confer risk, suggest under evolutionary selective pressure (1-4). In this report, we analyze haplotype structure MDM4, a structural homolog...
Ataxia-Telangiectasia Mutated (ATM) has been implicated in the risk of several cancers, but establishing a causal relationship is often challenging. Although ATM single-nucleotide polymorphisms have linked to melanoma, few functional alleles identified. Therefore, impact on melanoma predisposition unclear.
Abstract Background The current therapeutic algorithm for Advanced Stage Melanoma comprises of alternating lines Targeted and Immuno-therapy, mostly via Immune-Checkpoint blockade. While Comprehensive Genomic Profiling solid tumours has been approved as a companion diagnostic, still no predictive biomarkers are available aside from BRAF mutations the controversial Tumor Mutational Burden. This study presents results Multi-Centre Observational Clinical Trial on Target Immuno-therapy treated...
Background Post-transplant lymphoproliferative disorders represent an increasingly important complication of organ transplantation. Although the majority post-transplant disorder are etiologically related to Epstein–Barr virus infection other factors may play a role. Hepatitis C induce clonal expansion B-lymphocytes and has been associated with extrahepatic disorders. Objectives In this study, we have evaluated: (i) prevalence disorder; (ii) presence in tissue; (iii) potential association...
Circulating melanoma cells (CMCs) are responsible for the hematogenous spread of and, ultimately, metastasis. However, their study has been limited by low abundance in patient blood and heterogeneous expression surface markers. The FDA-approved CellSearch platform enriches CD146-positive CMCs, whose number correlates with progression-free survival overall survival. a single marker may not be sufficient to identify them all. Parsortix system allows enrichment CMCs based on size deformability,...
A growing number of sequence changes unknown clinical significance are being identified in the BRCA1 gene. However, these variants cannot be used for identification and surveillance at-risk individuals unless their pathogenic role can demonstrated. The frequency makes research on this subject a relevant topic field predisposition to breast ovarian cancers. Herein, we investigate pathogenicity p.Val1688del (c.5181_5183delGTT) variant, which recurs our population.Recent studies have drawn...
Abstract Purpose: MDM2 is a key negative regulator of p53 activity, and single nucleotide polymorphism (SNP309, T>G change; rs 2279744) in its promoter increases the affinity for transcription factor SP1, enhancing expression. We carried out pilot study to investigate effect this on development behavior neuroblastoma, an extracranial pediatric tumor with unfrequent genetic inactivation p53. Experimental Design: genotyped MDM2-SNP309 alleles DNA from 239 neuroblastoma patients...
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...