ISABELA BARBOSA FIRIGATO

(Fonte: Lattes)
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Lattes
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Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Faculdade de Medicina
LIM/40 - Laboratório de Imunohematologia e Hematologia Forense, Hospital das Clínicas, Faculdade de Medicina

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Assunto: Copy number variation ×

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  • article 3 Citação(ões) na Scopus
    Many hands make light work: CNV of GSTM1 effect on the oral carcinoma risk
    (2022) FIRIGATO, Isabela; LOPEZ, Rossana V. M.; CURIONI, Otavio A.; ANTONIO, Juliana De; GATTAS, Gilka Figaro; GONCALVES, Fernanda de Toledo
    Background: Genetic alterations of oral squamous cell carcinoma (OSCC) allow the understanding of the oral carcinogenesis and the identification of molecular biomarkers that aid the early diagnosis of the disease. The copy number variation (CNV) of GSTM1 and GSTT1 are promising targets because these two genes codify enzymes that perform the inactivation of tobacco carcinogens, which are the main risk factor of OSCC. However, the different levels of - detoxification mechanism in relation to each copy of the genes are unknown. Therefore, this study aimed to investigate the possible association of the CNV of GSTM1 and GSTT1 with the risk of development of OSCC. Methods: A total of 234 OSCC patients and 422 patients without any cancer diagnoses were recruited from Heli acute accent opolis Hospital from 2000 to 2011. The CNV was determined by TaqMan real-time PCR and the CopyCaller software. Odds ratio (OR) and 95% confidence interval (95% CI) values were calculated by Multiple Logistic Regression. Results: Most OSCC patients reported they continued smoking high amounts of cigarettes despite the tumor diagnosis. The CNV of GSTM1 varied from zero to two copies and the analysis revealed that two copies of GSTM1 decreased by 53% the OSCC risk (OR 0.47; 95% CI 0.24-0.92) and the risk of the tumor was modified according to the interaction of the CNV of GSTM1 and the cigarette smoking consumption, which for the amount of 40 packs-year of cigarettes the OSCC risk diminished progressively according to the increase of copies of GSTM1. Although the GSTT1 gene varied from zero to three copies, none of them were associated with the tumor risk. Conclusion: The findings suggest that the CNV of GSTM1 might be applied as a tool for the surveillance of patients and the early detection of OSCC.
  • article 2 Citação(ões) na Scopus
    How many copies of GSTM1 and GSTT1 are associated with head and neck cancer risk?
    (2019) FIRIGATO, Isabela; GONCALVES, Fernanda de Toledo; ANTONIO, Juliana De; CURIONI, Otavio Alberto; SILVA, Mariana Rocha; GATTAS, Gilka Jorge Figaro
    Purpose: GSTM1 and GSTT1 present a polymorphism that can drive complete gene deletions. The current methodology can powerfully determine GSTM1 and GSTT1 copy number variations (CNVs), which may clarify the real contribution of each gene copies to the cellular detoxification process and tumour risk. However, only analysing the presence/absence of these genes yielded controversial results for several disorders, including cancer. Because head and neck cancer (HNC) is becoming a serious global health problem, this study determined the CNVs of GSTM1 and GSTT1 in an HNC case-control population and investigated the possible association between gene copy numbers and tumour risk. Methods: CNV was evaluated by (Ct) 2(-Delta Delta Ct) qPCR methodology in 619 HNC patients and 448 patients with no tumour diagnosis. Results: The genes copy number range was 0-3. The CNV of GSTM1 and GSTT1 frequencies were similar between the cases and control. Thus, none copy of GSTM1 and GSTT1 were associated with HNC risk. Notwithstanding, one copy of both genes had higher frequencies among individuals who carried GSTM1 and GSTT1. Conclusions: One copy number of GSTM1 and GSTT1 presented a higher frequency among carrier genes, but the CNV of GSTM1 and GSTT1 was not associated with HNC risk.