A5060494926- Estrogen and related hormone effects
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- Gene expression and cancer classification
- Cancer Genomics and Diagnostics
- Cancer Risks and Factors
- Colorectal Cancer Treatments and Studies
- Immune Cell Function and Interaction
- Complement system in diseases
- Cancer Cells and Metastasis
- Lung Cancer Treatments and Mutations
- Monoclonal and Polyclonal Antibodies Research
- T-cell and B-cell Immunology
- Renal Diseases and Glomerulopathies
- Bioinformatics and Genomic Networks
- Colorectal and Anal Carcinomas
- Cancer Immunotherapy and Biomarkers
- Glycosylation and Glycoproteins Research
- Cytokine Signaling Pathways and Interactions
- HER2/EGFR in Cancer Research
- Radiomics and Machine Learning in Medical Imaging
- Heavy metals in environment
- Cancer therapeutics and mechanisms
- Cancer-related Molecular Pathways
- Reproductive System and Pregnancy
Ospedale Policlinico San Martino
2012-2024
Alleanza Contro il Cancro
1989-2012
Cancer Research Institute
2010
Laboratory of Molecular Genetics
2006-2007
University of Genoa
2005
San Raffaele University of Rome
2005
CTLA-4 blockade with monoclonal antibodies can lead to cancer regression in patients metastatic melanoma (MM). gene polymorphisms may influence the response anti-CTLA-4 although few data are available regarding this issue. We analyzed six single nucleotide (−1661A>G, −1577G>A, −658C>T, −319C>T, +49A>G, and CT60G>A) 14 Italian MM 45 healthy subjects. found a significant association between −1577G/A CT60G/A genotypes improved overall survival (Pc < 0.006, Bonferroni corrected), further...
Trastuzumab is a humanized monoclonal antibody (mAb) currently used for the treatment of breast cancer (BC) patients with HER-2 overexpressing tumor subtype. Previous data reported involvement FcγRIIIA/IIA gene polymorphisms and/or antibody-dependent cellular cytotoxicity (ADCC) in therapeutic efficacy trastuzumab, although results on these issues are still controversial. This study was aimed to evaluate vitro functional relationships among polymorphisms, ADCC intensity and expression target...
Mismatch repair (MMR) testing on all new cases of colorectal cancer (CRC) has customarily been preferably performed surgical specimens, as more tissue is available; however, clinical trials for the use immune checkpoint inhibitors in neoadjuvant setting require MMR biopsy samples. This study aims at identifying advantages, disadvantages and any potential pitfalls evaluation how to cope with them. The prospective-retrospective, recruiting 141 biopsies (86 proficient (p)MMR 55 deficient...
The Lynch syndrome (LS) screening algorithm requires BRAF testing as a fundamental step to distinguish sporadic from LS-associated colorectal carcinomas (CRC). by immunohistochemistry (IHC) has shown variable results in the literature. Our aim was analyse concordance between
The demonstration of EGFR T790M gene mutation in plasma is crucial to assess the eligibility Non Small Cell Lung Cancer (NSCLC) patients, who have acquired resistance first or second generation Tyrosine Kinase Inhibitors (TKIs), receive a subsequent treatment with osimertinib. Since circulating tumor DNA (ctDNA) present very low amounts plasma, high sensitive and specific methods are required for molecular analysis. Improving sensitivity detection ctDNA enables larger number NSCLC patients...
We describe a simple tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) for detecting MUTYH mutations, which are associated with colorectal adenomas and cancer.We designed specific T-ARMS-PCR assays 6 mutations (Y165C, G382D, 1395_7delGGA, Y90X, 1103delC, R231H) selected on the basis of frequency their occurrence. also set 3 multiplex T-ARMS assays, each detection 2 mutations. tested DNA samples from patients attenuated or classic adenomatous polyposis coli no detectable...
Estrogen synthesis suppression induced by aromatase inhibitors in breast cancer (BC) patients may be affected single nucleotide polymorphisms (SNPs) of the gene encoding enzyme, CYP19A1. We assessed association between plasma estrone sulfate (ES), letrozole treatment, and four SNPs CYP19A1 (rs10046 C>T, rs4646 G>T, rs749292 rs727479 T>G) which seem to related circulating estrogen levels. Patients were enrolled into a prospective, Italian multi-center clinical trial (Gruppo Italiano Mammella,...
Abstract Purpose: In estrogen receptor–positive (ER+) breast cancer, single-nucleotide polymorphisms (SNP) in the aromatase gene might affect inhibitors (AI) metabolism and efficacy. Here, we assessed impact of SNP on prognosis toxicity patients receiving adjuvant letrozole. Experimental Design: We enrolled 886 postmenopausal study. They were treated with letrozole for 2 to 5 years after taking tamoxifen 6 years, continuing until they completed 10 therapy. Germline DNA was genotyped rs4646,...
Background Universal screening of colorectal cancer (CRC) patients for Lynch syndrome (LS) through MisMatch Repair (MMR) testing is recommended. BRAFV600E mutation and/or MLH1 promoter methylation (Reflex Testing, RefT)generally rule out LS in MLH1-deficient (dMLH1) patients. We estimated the impact RefTon genetic counseling (GC) and on diagnostic yield (GT). Methods Overall, 3199 CRC were referred to our center between 2011 2021. Patients until January 2019 (n=2536) underwent universal MMR...
Molecular characterization is pivotal for managing non-small cell lung cancer (NSCLC), although this process often time-consuming and patients' conditions might worsen while molecular analyses are processed. Our primary aim was to evaluate the performance of "up-front" next-generation sequencing (NGS) through liquid biopsy (LB) hospitalized patients with newly detected neoplasm in parallel conventional diagnosis. The secondary included longitudinal monitoring LB oncogenic alterations at...
Chronic lymphocytic leukemia (CLL) is a hematological disorder with complex clinical and biological behavior. TP53 mutational status cytogenetic assessment of the deletion corresponding locus (17p13.1) are considered most relevant biomarkers associated pharmaco-predictive response, chemo-refractoriness, worse prognosis in CLL patients. The implementation Next Generation Sequencing (NGS) methodologies laboratory allows for comprehensively analyzing gene detecting mutations allele frequencies...
The growth and differentiation of normal neoplastic epithelial cells may be regulated by the presence adjacent tissues cells, particularly stromal fibroblasts. However, influence fibroblast-tumor cell interactions on response malignant to radiation has not been adequately investigated nor possible role played a 3-D environment in such modulation. We addressed this question embedding MCF-7 mammary carcinoma into collagen lattice, alone or mixed with HSF human dermal fibroblasts, kept gels...
Abstract The use of biological indicators to monitor atmospheric pollution is widely distributed. analysis heavy metals in leaves suggested as a method for rapid identification polluted areas. Reproducibility and representativity this must be assessed. We have verified if the concentration lead, chromium, copper, nickel manganese “Quercus Ilex” may used classify urban areas according level their pollution. Particular emphasis was placed on reproducibility sampling analytical method....
Targeted next-generation sequencing (NGS) based on molecular tagging technology allowed considerable improvement in the approaches of cell-free DNA (cfDNA) analysis. Previously, we demonstrated feasibility OncomineTM Lung Assay (OLcfA) NGS panel when applied plasma samples post-tyrosine kinase inhibitors (TKIs) non-small cell lung cancer (NSCLC) patients. Here, explored detail coverage metrics and variant calling assay highlighted strengths challenges by analyzing 92 collected from a routine...
Abstract The concentration of nine metals (T1, Pb, Mn, Fe, Cr, Zr, V, Ni, Cd) was measured by ICP in airborne particulate matter. Two hundred samples were collected 7 sampling sites selected according to specific emissions existing the areas. Results confirmed usefulness multi-element analyses identify major sources pollution. following associations evidentiated. Steel plant: Cr; Urban incinerator: Cd, Mn; Traffic: Oil combustion: Ni; Cement T1. research has also given useful information...
Abstract Paroxysmal nocturnal haemoglobinuria ( PNH ) is a haematopoietic disorder characterized by expansion of phosphatidylinositol glycan‐A‐defective progenitor(s). Immune‐dependent mechanisms, likely involving deranged T cell‐dependent autoimmune response, have been consistently associated with the selection/dominance precursors. Natural killer NK lymphocytes might participate in pathogenesis, but their role still controversial. activity dependent on balance between activating and...
Molecular characterization of Circulating Tumor Cells (CTCs) is still challenging, despite attempts to minimize the drawbacks Whole Genome Amplification (WGA). In this paper, we propose a Next-Generation Sequencing (NGS) optimized protocol based on molecular tagging technology, in order detect CTCs mutations while skipping WGA step. MDA-MB-231 and MCF-7 cell lines, as well leukocytes, were sorted into pools (2–5 cells) using DEPArray™ system employed set up overall NGS procedure. A...
8588 Background: It has been suggested that specific CTLA-4 gene polymorphisms may have an important role in advanced melanoma patients (pts) receiving blockade therapy (Breunis W. et al. J Immunother 31:586,2008). We therefore evaluated five single nucleotide (SNPs) metastatic (MM) pts treated with anti-CTLA-4 blocking antibodies Ipilimumab or Ticilimumab. Methods: The analysis was performed 14 unresectable MM enrolled multi-center, arm, phase II studies of (CA184008) Ticilimumab (A3671009)...
2016 Background: Inherited variation in the activity of enzymes involved drug metabolism are likely to be responsible for most inter-individual variability toxicity and efficacy drugs themselves. The topoisomerase-I inhibitor irinotecan may have unpredictable severe toxicity: mainly diarrhea myelosuppression. Its active metabolite, SN38, is inactivated through glucuronidation by uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1). UGT1A1 promoter includes, TATA box region, a well known...