Association of Folate and Vitamins Involved in the 1-Carbon Cycle with Polymorphisms in the Methylenetetrahydrofolate Reductase Gene (MTHFR) and Global DNA Methylation in Patients...

por Ferrari, Ariana, Torrezan, Giovana Tardin, Carraro, Dirce Maria, Aguiar Junior, Samuel
Publicado 2019

Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant

por Riechelmann, Rachel P, Soares, Diogo C, Dias, Carla, Carraro, Dirce M, Torrezan, Giovana T
Publicado 2022

Pitfalls in genetic testing: a case of a SNP in primer‐annealing region leading to allele dropout in BRCA1

por Silva, Felipe Carneiro, Torrezan, Giovana Tardin, Brianese, Rafael Canfield, Stabellini, Raquel, Carraro, Dirce Maria
Publicado 2017

Dihydropyrimidine dehydrogenase (DPD) polymorphisms knocking on the door

por Donadio, Mauro Daniel Spina, Carraro, Dirce Maria, Torrezan, Giovana Tardin, de Mello, Celso Abdon Lopes
Publicado 2022

Mutational spectrum of WTX, WT1, CTNNB1, APC and PLCG2 genes in Wilms tumor defined by massive parallel resequencing

por Barros, Bruna D, Torrezan, Giovana T, Ferreira, Elisa N, Maschietto, Mariana, Krepíschi, Ana CV, Carraro, Dirce M
Publicado 2012

Oral and maxillofacial considerations in Gardner’s syndrome: a report of two cases

por Pereira, Debora Lima, Carvalho, Paulo Andre, Achatz, Maria Isabel Waddington, Rocha, AndreCaroli, TardinTorrezan, Giovana, Alves, Fabio Abreu
Publicado 2016

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

por Torrezan, Giovana T, da Silva, Felipe CC, Krepischi, Ana CV, Santos, Érika MM, de O Ferreira, Fábio, Rossi, Benedito M, Carraro, Dirce M
Publicado 2011

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

por Torrezan, Giovana Tardin, da Silva, Felipe Cavalcanti Carneiro, Krepischi, Ana Cristina Victorino, dos Santos, Érika Maria Monteiro, Rossi, Benedito Mauro, Carraro, Dirce Maria
Publicado 2012

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

por Silva, Felipe C, Lisboa, Bianca CG, Figueiredo, Marcia CP, Torrezan, Giovana T, Santos, Érika MM, Krepischi, Ana C, Rossi, Benedito M, Achatz, Maria I, Carraro, Dirce M
Publicado 2014

Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients

por Soares de Sá, Bianca Costa, Moredo, Luciana Facure, Torrezan, Giovana Tardin, Fidalgo, Felipe, de Araújo, Érica Sara Souza, Formiga, Maria Nirvana, Duprat, João Pereira, Carraro, Dirce Maria
Publicado 2023

The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study

por da Costa, Leonardo Tomiatti, dos Anjos, Laura Gonzalez, Kagohara, Luciane Tsukamoto, Torrezan, Giovana Tardin, De Paula, Claudia A. Andrade, Baracat, Edmund Chada, Carraro, Dirce Maria, Carvalho, Katia Candido
Publicado 2021

Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients

por Torrezan, Giovana Tardin, da Silva, Felipe Cavalcanti Carneiro, Santos, Érika Maria Monteiro, Krepischi, Ana Cristina Victorino, Achatz, Maria Isabel Waddington, Junior, Samuel Aguiar, Rossi, Benedito Mauro, Carraro, Dirce Maria
Publicado 2013

BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

por Soares de Sá, Bianca Costa, de Macedo, Mariana Petaccia, Torrezan, Giovana Tardin, Braga, Juliana Casagrande Tavoloni, Fidalgo, Felipe, Moredo, Luciana Facure, Lellis, Rute, Duprat, João Pereira, Carraro, Dirce Maria
Publicado 2019

Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients

por Paixão, Daniele, Torrezan, Giovana Tardin, Santiago, Karina Miranda, Formiga, Maria Nirvana, Ahuno, Samuel Terkper, Dias-Neto, Emmanuel, Tojal da Silva, Israel, Foulkes, William D., Polak, Paz, Carraro, Dirce Maria
Publicado 2022

A cross-sectional study of clinical, dermoscopic, histopathological, and molecular patterns of scalp melanoma in patients with or without androgenetic alopecia

por Porto, Ana Carolina, Pinto Blumetti, Tatiana, Calsavara, Vinícius Fernando, Tardin Torrezan, Giovana, Andrade de Paula, Cláudia Alessandra, Lellis, Rute, Pedreira Duprat Neto, João, Carraro, Dirce Maria, Casagrande Tavoloni Braga, J.
Publicado 2022

Mutation Detection in Tumor-Derived Cell Free DNA Anticipates Progression in a Patient With Metastatic Colorectal Cancer

por de Figueiredo Barros, Bruna D., Kupper, Bruna E. C., Aguiar Junior, Samuel, de Mello, Celso A. L., Begnami, Maria D., Chojniak, Rubens, de Souza, Sandro J., Torrezan, Giovana T., Carraro, Dirce M.
Publicado 2018

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families

por Fidalgo, Felipe, Torrezan, Giovana Tardin, de Sá, Bianca Costa Soares, Barros, Bruna Durães de Figueiredo, Moredo, Luciana Facure, Valieris, Renan, de Souza, Sandro J., Duprat, João Pereira, Krepischi, Ana Cristina Victorino, Carraro, Dirce Maria
Publicado 2022

Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition

por Simões, Maria Fernanda Evangelista, da Costa, Alexandre André Balieiro Anastácio, Silva, Tullio Novaes, Fernandes, Lizieux, Bovolim, Graziele, Torrezan, Giovana Tardin, Carraro, Dirce Maria, Baiocchi, Glauco, Menezes, Ademir Narcizo Oliveira, Santana Dos Santos, Elizabeth, De Brot, Louise
Publicado 2022

Mutational Portrait of Lung Adenocarcinoma in Brazilian Patients: Past, Present, and Future of Molecular Profiling in the Clinic

por Freitas, Helano C., Torrezan, Giovana Tardin, da Cunha, Isabela Werneck, Macedo, Mariana Petaccia, Karen de Sá, Vanessa, Corassa, Marcelo, Ferreira, Elisa Napolitano e, Saito, Augusto Obuti, Dal Molin, Graziela Zibetti, Cordeiro de Lima, Vladmir C., Carraro, Dirce Maria
Publicado 2020

Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

por Mello, Celso Abdon, Campos, Fernando Augusto Batista, Santos, Tiago Goss, Silva, Maria Leticia Gobo, Torrezan, Giovana Tardin, Costa, Felipe D’Almeida, Formiga, Maria Nirvana, Nicolau, Ulisses, Nascimento, Antonio Geraldo, Silva, Cassia, Curado, Maria Paula, Nakagawa, Suely Akiko, Lopes, Ademar, Aguiar, Samuel
Publicado 2021