A5090419567- Bladder and Urothelial Cancer Treatments
- Epigenetics and DNA Methylation
- Inflammatory Biomarkers in Disease Prognosis
- Lung Cancer Treatments and Mutations
- Cancer, Hypoxia, and Metabolism
- Cancer Immunotherapy and Biomarkers
- Telomeres, Telomerase, and Senescence
- DNA Repair Mechanisms
- Cardiovascular Disease and Adiposity
- Urinary and Genital Oncology Studies
- Radiopharmaceutical Chemistry and Applications
- Transcranial Magnetic Stimulation Studies
- Urological Disorders and Treatments
- Glutathione Transferases and Polymorphisms
- Water Treatment and Disinfection
- Nutrition, Genetics, and Disease
- Tissue Engineering and Regenerative Medicine
- Lung Cancer Research Studies
- Indoor Air Quality and Microbial Exposure
- Birth, Development, and Health
- Sperm and Testicular Function
- Health, Environment, Cognitive Aging
- Hepatitis C virus research
- Multiple and Secondary Primary Cancers
- Environmental Chemistry and Analysis
Italian institute for Genomic Medicine
2011-2019
University of Turin
2008-2019
Ospedale San Luigi Gonzaga
2018-2019
University Radiology
2013
Most bladder cancer (BC) patients need life-long, invasive and expensive monitoring treatment, making it a serious burden on the health system. Thus, there is pressing for an accurate test to assist diagnosis surveillance of BC as alternative cystoscopy. Mutations in human TERT, FGFR3, PIK3CA, RAS genes have been proposed potential molecular markers tumor. Their concomitant presence urine samples has not fully explored.We investigated panel mutations DNA from exfoliated urinary cells 255 at...
Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk the disease.We report here results a GWAS UBC including 1670 cases and 90 180 controls, followed by replication analysis in additional 5266 10 456 controls.We tested dataset containing 34.2 million variants, generated imputation based on whole-genome sequencing 2230 Icelanders.Several correlated 20p12, represented rs62185668, show genome-wide significant...
Bladder cancer (BC) is among the most common malignancies worldwide. The identification of new biomarkers for early BC detection, recurrence/progression urgently needed. cytokinesis-block micronucleus assay (CBMN) evaluates chromosome damage in cultured human lymphocytes and micronuclei (MN) provide a convenient reliable index both breakage loss.Chromosomal (expressed as frequencies MN, nucleoplasmic bridges nuclear buds (NBUD)) was evaluated by CBMN cryopreserved from 158...
Argininosuccinate synthase (ASS)1 is a urea cycle enzyme that catalyzes the conversion of citrulline and aspartate to argininosuccinate. Mutations in ASS1 gene cause citrullinemia type I, rare autosomal recessive disorder characterized by neonatal hyperammonemia, elevated levels, early death. Treatment for this disease currently restricted liver transplantation; however, due limited organ availability, substitute therapies are required. Recently, extracellular vesicles (EVs) have been...
Shorter telomere length (TL) has been reported to be associated with increased risk of early death in elder individuals. Telomere shortening also related chromosomal instability, which may possibly contribute the development several types digestive or urogenital system cancers and smoking-related tumors. Therefore, we investigated impact TL on bladder cancer survival.TL was measured leukocyte DNA from whole peripheral blood using quantitative real-time PCR 463 patients a total 726 cases who...
Swimming in pools is a healthy activity that entails exposure to disinfection by-products (DBPs), some of which are irritant and genotoxic. We evaluated DBPs during swimming chlorinated pool the association with short-term changes genotoxicity lung epithelium permeability biomarkers. Non-smoker adults (N = 116) 40 min an indoor were included. measured range biomarkers before at different times after swimming: trihalomethanes (THMs) exhaled breath (5 min), trichloroacetic acid (TCAA) urine...
Survival of bladder cancer patients depends on several factors including disease stage and grade at diagnosis, age, health status the patient applied treatment. Several studies investigated role DNA repair genetic variants in susceptibility, but only few their survival response to chemotherapy for cancer. We genotyped 28 single nucleotide polymorphisms (SNP) genes 456 patients, reconstructed haplotypes calculated a score combinations SNPs. estimated Hazard Ratios (adjHR) time death. Among...
Leukocyte telomere length (LTL) provides a potential marker of biological age, closely related to the endothelial dysfunction and consequently atherosclerotic process. To investigate relationship between LTL risk premature acute myocardial infarction evaluate predictive value on onset major cardiovascular events, 199 patients from 18 48 years old with first diagnosis were enrolled matched 190 controls for sex age (± 1 year). Clinical data coronary artery disease evaluated at enrollment...
The 8q24 region is a gene desert, although chromosomal aberrations and somatic amplification involving this region, including translocations the protooncogene c-MYC, have been frequently reported in people with cancer. To investigate role of variants authors analyzed data from prospective study (n = 10,372 participants who were followed for 11 years) which large number health events (>1,500) occurred (1993–1998). They genotyped all subjects 5 candidate single nucleotide polymorphisms...
Abstract Aromatic amines are involved in the etiology of bladder cancer and these compounds acetylated by N-acetyltransferase 1 (NAT1) 2 (NAT2). Epidemiological studies have shown that slow NAT2 acetylator phenotype is associated with increased risk cancer. Although several an association between SNPs NAT2, impact on survival has not been established. Because innate characteristics individuals, we hypothesize their presence could effect even after tumor resection and, thus, be useful as...
Abstract Bladder cancer (BC) is the sixth most commonly diagnosed tumor worldwide. DNA repair capacity (DRC) refers to ability of a cell protect integrity genome and pathways have been implicated in BC risk. It has observed that individuals with low DRC tend accumulate more damage than those efficient DRC. This inter-individual variability modulated by genetic background, as well differential gene expression epigenetic regulation. We aimed at studying relationship between (evaluated H2AX...
Abstract In Europe, bladder cancer (BC) is the second most common cause of death among patients with genitourinary tract malignancies. Patients non-muscle invasive (NMIBC) have excellent survival; however two-thirds develop recurrences. For diagnosis BC, we mainly rely on urine cytology and cystoscopy. Although cystoscopy mainstay diagnosis, it an costly procedure. Cytology has high specificity but low sensitivity especially in low-grade, low-stage tumors. Urine sediment cells are a source...
Abstract Bladder cancer (BC) survival is highly influenced by environmental and predisposing genetic factors. In the last decades growing evidence of major role played DNA repair systems in after a BC has been provided. The objectives study are to assess relationship between Repair Genes polymorphisms treatment bladder patients. We conducted hospital-based case-control investigation at S. Giovanni Battista hospital Turin, where about half incident Turin metropolitan area treated. Cases...