CV Lattes
ORCID
graduate at Ci6encias Biológicas Licenciatura from Universidade Federal de Santa Maria (2001), master's at Genetics from Universidade Federal do Rio Grande do Sul (2002) and ph.d. at Genetics from Universidade Federal do Rio Grande do Sul (2007). Has experience in Genetics, focusing on Human and Medical Genetics, acting on the following subjects: genetic counseling, breast cancer, aconselhamento genético, câncer de mama and câncer. (Source: Lattes Curriculum)
- Functional evaluation of DNA repair genes to determine their role in the development and treatment of hereditary breast cancer, AP.R
Abstract
Individuals with hereditary breast cancer (HBC) have an increased cancer risk and may benefit from PARP-targeted therapy with PARP inhibitors (PARPi). Additionally, symptomatic or asymptomatic first-degree relatives have a 50% chance of being carriers of the segregating mutation in the family. Most genes associated with HBC are involved in DNA damage repair. However, about 50% of HBC ca...
- Molecular characterization of at high risk families for hereditary breast cancer, negatives for BRCA1/BRCA2: looking for the BRCAx, AP.R
Abstract
Breast cancer (BC) is considered a public health problem, being 5% to 10% hereditary. The identification of individuals at risk for hereditary cancer is important because: 1) affected individuals have a much higher cumulative cancer risk, 2) relatives of an affected individual may be at-risk for hereditary cancer, and 3) the existence of intensive screening and preventive intervention ...
- Evaluation of the presence and frequency of the TP53-p.R337H mutation in gastric cancer of patients at Barretos Cancer Hospital, BP.IC
Abstract
Gastric cancer is a very aggressive pathology that still with a frightening prognosis. Despite the decrease of the incidence, the gastric cancer remains as one of the most deadly diseases, being the fourth most diagnosed cancer and the second most deadly cancer in the world. Somatic mutation in the TP53 gene are frequently in gastric tumors. However, the frequency of germline mutations ...
- Functional analysis of variants of uncertain significance in the breast cancer predisposition gene PALB2, BP.MS
Abstract
Breast cancer is the more frequent tumor type in women, about 5-10% of the cases are hereditary. The main genes associated with a higher breast cancer predisposition are BRCA1, BRCA2, TP53, PTEN, CDH1, STK11 and, more recently, PALB2, a tumor suppressor gene involved in several cellular functions, mainly in the DNA Double-Strand Break (DSB) repair. The genetic variants found in these ge...
- Use of PARP inhibitors in breast and ovary cancer cell lines harboring mutations in genes of the homologous recombination DNA repair pathway, BP.MS
Abstract
It is known that breast and ovarian tumors with germline mutations in BRCA1 or BRCA2 genes are up to 1000 times more sensitive to treatment with PARP inhibitors than wild type tumors. Although, little is known about the effect of these PARP inhibitors on tumors harboring mutations in other genes involved in the homologous recombination mechanism of DNA repair. The objective of this work...
(Only some records are available in English at this moment)
- Mechanisms of PD-1 and Tim-3 crosstalk in tumor infiltrating lymphocytes, BE.EP.PD
Abstract
Programmed Death 1 (PD-1) and T cell Ig and mucin domain-3 protein (Tim-3) are immune checkpoint receptors that are expressed on tumor-infiltrating lymphocytes (TIL) in tumor-bearing mice and humans. As anti-PD-1 single agent response rates are only <20% in head and neck squamous cell carcinoma (HNSCC) patients, it is important to understand how multiple inhibitory checkpoint receptors ...
| 1 / 1 | Ongoing research grants |
| 1 / 1 | Completed research grants |
| 12 / 7 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
| 15 / 10 | All research grants and scholarships |
| Associated processes | |
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
| Publications | 8 |
| Citations | 25 |
| Cit./Article | 3.1 |
| Data from Web of Science | |
FERNANDES, GABRIELA C.; MICHELLI, RODRIGO A. D.; GALVAO, HENRIQUE C. R.; PAULA, ANDRE E.; PEREIRA, RUI; ANDRADE, CARLOS E.; FELICIO, PAULA S.; SOUZA, CRISTIANO P.; MENDES, DEISE R. P.; VOLC, SAHLUA; et al. Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. ONCOTARGET, v. 7, n. 49, p. 80465-80481, DEC 6 2016. Web of Science Citations: 12. (13/24633-2)
NIELSEN, SARAH M.; ECCLES, DIANA M.; ROMERO, IRIS L.; AL-MULLA, FAND; BALMANA, JUDITH; BIANCOLELLA, MICHELA; BLOK, RIEN; CALIGO, MARIA ADELAIDE; CALVELLO, MARIAROSARIA; CAPONE, GABRIELE LORENZO; et al. Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group. JCO PRECISION ONCOLOGY, v. 2, OCT 26 2018. Web of Science Citations: 1. (13/24633-2)
CAMPACCI, NATALIA; DE LIMA, JULIANA O.; CARVALHO, ANDRE L.; MICHELLI, RODRIGO D.; HAIKEL, JR., RAFAEL; MAUAD, EDMUNDO; VIANA, DANILO V.; MELENDEZ, MATIAS E.; VAZQUEZ, FABIANA DE L.; ZANARDO, CLEYTON; et al. Identification of hereditary cancer in the general population: development and validation of a screening questionnaire for obtaining the family history of cancer. CANCER MEDICINE, v. 6, n. 12, p. 3014-3024, DEC 2017. Web of Science Citations: 2. (13/24633-2, 15/02444-9)
CARR, OLIVIA; RAYMUNDO-PEREIRA, PAULO A.; SHIMIZU, FLAVIO M.; SORROCHE, BRUNA PEREIRA; MELENDEZ, MATIAS ELISEO; PEDRO, RAFAEL DE OLIVEIRA; MIRANDA, PAULO B.; CARVALHO, ANDRE LOPES; REIS, RUI M.; ARANTES, LIDIA M. R. B.; et al. Genosensor made with a self-assembled monolayer matrix to detect MGMT gene methylation in head and neck cancer cell lines. Talanta, v. 210, APR 1 2020. Web of Science Citations: 0. (17/03503-4, 12/15543-7, 18/02819-0, 15/12990-0, 13/14262-7, 19/13390-8, 16/01919-6)
TORREZAN, GIOVANA T.; DE ALMEIDA, FERNANDA G. DOS SANTOS R.; FIGUEIREDO, MARCIA C. P.; DE FIGUEIREDO BARROS, BRUNA D.; DE PAULA, CLAUDIA A. A.; VALIERIS, RENAN; DE SOUZA, JORGE E. S.; RAMALHO, RODRIGO F.; DA SILVA, FELIPE C. C.; FERREIRA, ELISA N.; et al. Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer. FRONTIERS IN GENETICS, v. 9, MAY 7 2018. Web of Science Citations: 4. (13/24633-2, 08/57887-9, 13/23277-8)
PALMERO, EDENIR INEZ; CARRARO, DIRCE MARIA; ALEMAR, BARBARA; MARTINS MOREIRA, MIGUEL ANGELO; RIBEIRO-DOS-SANTOS, ANDREA; ABE-SANDES, KIYOKO; REIS GALVAO, HENRIQUE CAMPOS; REIS, RUI MANUEL; SOUZA, CRISTIANO DE PADUA; CAMPACCI, NATALIA; et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. SCIENTIFIC REPORTS, v. 8, JUN 15 2018. Web of Science Citations: 6. (13/24633-2)
FELICIO, PAULA SILVA; MELENDEZ, MATIAS ELISEO; REBOLHO BATISTA ARANTES, LIDIA MARIA; KERR, LIGIA MARIA; CARRARO, DIRCE MARIA; GRASEL, REBECA SILVEIRA; CAMPACCI, NATALIA; SCAPULATEMPO-NETO, CRISTOVAM; FERNANDES, GABRIELA CARVALHO; DE CARVALHO, ANA CAROLINA; et al. Genetic and epigenetic characterization of the BRCA1 gene in Brazilian women at-risk for hereditary breast cancer. ONCOTARGET, v. 8, n. 2, p. 2850-2862, JAN 10 2017. Web of Science Citations: 0. (13/24633-2, 13/23277-8)
FELICIO, PAULA SILVA; ALEMAR, BARBARA; COELHO, ALINE SILVA; BERARDINELLI, GUSTAVO NORIZ; MELENDEZ, MATIAS ELISEO; LENGERT, ANDRE VAN HELVOORT; MICHE ILI, RODRIGO DEPIERI; REIS, RUI M.; FERNANDES, GABRIELA CARVALHO; EWALD, INGRID PETRONI; et al. Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast. CANCER GENETICS, v. 228, p. 93-97, DEC 2018. Web of Science Citations: 0. (13/24633-2)