A5029528824- Cancer Genomics and Diagnostics
- Cutaneous Melanoma Detection and Management
- Epigenetics and DNA Methylation
- Melanoma and MAPK Pathways
- Cancer-related Molecular Pathways
- CRISPR and Genetic Engineering
- Cancer Cells and Metastasis
- Immunotherapy and Immune Responses
- BRCA gene mutations in cancer
- Lung Cancer Treatments and Mutations
- Hematopoietic Stem Cell Transplantation
- Acute Myeloid Leukemia Research
- Lung Cancer Research Studies
- melanin and skin pigmentation
- Gastric Cancer Management and Outcomes
- Angiogenesis and VEGF in Cancer
- Ubiquitin and proteasome pathways
- Cancer, Stress, Anesthesia, and Immune Response
- DNA Repair Mechanisms
- Chronic Lymphocytic Leukemia Research
- Mesenchymal stem cell research
- Lymphoma Diagnosis and Treatment
- Peptidase Inhibition and Analysis
- Gastrointestinal Tumor Research and Treatment
- Nutrition, Genetics, and Disease
Istituto Oncologico Veneto
2007-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2024
Genomics (United Kingdom)
2014
University of Padua
2003-2012
IFOM
2007
European Institute of Oncology
2007
Azienda Ospedaliera di Padova
2004
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...
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...
We investigated whether Circulating Tumor Cells (CTCs) isolated from epithelial tumors could survive and grow in xenotransplants.To this purpose, EpCAM-positive CTCs were enriched by CellSearch platform the only FDA-cleared automated that quantifies tumor burden peripheral blood provides clinical evidence of predictive prognostic value.The metastatic prostate (n=6) breast (n=2) cancer patients.The xenograft assay was developed 8-week-old NOD/SCID mice subcutaneously injected with increasing...
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...
Sinusoidal obstruction syndrome (SOS), also known as veno-occlusive disease (VOD), is a rare but potentially fatal complication following allogenic hematopoietic cell transplantation (allo-HCT). Timely identification of SOS/VOD to allow for prompt treatment critical, identifying VOD-predictive biomarker remains challenging. Given the pivotal role endothelial dysfunction in pathophysiology, CECinVOD study prospectively evaluated levels circulating cells (CECs) patients undergoing allo-HCT...
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...
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...
Anti-HER2 monoclonal antibody trastuzumab improves the survival of those patients with advanced gastroesophageal adenocarcinoma (GEA) exhibiting HER2/ERBB2 overexpression/amplification. The current gold standard methods used to diagnose HER2 status in GEA are immunohistochemistry (IHC) and silver or fluorescence situ hybridization (SISH FISH). However, they do not permit spatial temporal tumor monitoring, nor overcome intra-cancer heterogeneity. Droplet digital PCR (ddPCR) was implement...
Abstract: In non-small cell lung cancer (NSCLC), there is a consensus regarding the use of liquid biopsy, generally, to detect "druggable" mutations and, in particular, monitor tyrosine kinase inhibitor (TKI) treatments. However, whether circulating tumor cells (CTCs) are better tools than cell-free DNA (cfDNA), still matter debate, mainly concerning which antigen(s) we should investigating simultaneously both epithelial and epithelial-to-mesenchymal transient (EMT) phenotype same sample...
Predisposition to familial cutaneous malignant melanoma has been associated with mutations in the CDKN2A and CDK4 genes. However, only a small subgroup of pedigrees harbour or germline mutations. It is possible that other types rearrangements, not detectable by routine PCR-based approaches, are involved fraction cases negative for point sequence changes. In order gain insights on role large deletions duplications susceptibility Italian population, we screened series 124 families referred...
The systemic treatment of metastatic melanoma has radically changed, due to an improvement in the understanding its genetic landscape and advent targeted therapy. However, response BRAF/MEK inhibitors is transitory, big efforts were made identify mechanisms underlying resistance. We exploited a combined approach, encompassing liquid biopsy analysis molecular dynamics simulation, for tracking tumor evolution, parallel defining best option. samples at different time points collected from...
The Food and Drug Administration (FDA) has approved MAPK inhibitors as a treatment for melanoma patients carrying mutation in codon V600 of the BRAF gene exclusively. However, mutations outside may occur small percentage melanomas. Although these rare variants cause B-RAF activation, their predictive response to inhibitor treatments is still poorly understood. We exploited an integrated approach detection, tumor evolution tracking, assessment metastatic patient p.T599dup mutation. He was...
The management of metastatic melanoma is a difficult matter. Nevertheless, the advent target therapy has significantly improved patient outcome, provided that tumor molecular characteristics become available: detection drug-resistant clones can contribute to understanding reasons for resistance onset, influencing choice subsequent therapy. This work aimed provide possible explanation early vemurafenib developed by with melanoma, and concurrently assess extent, role, clonal heterogeneity. We...