CV Lattes
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Fundação Antonio Prudente (FAP). A C Camargo Cancer Center (Institutional affiliation from the last research proposal) Birthplace: Brazil
Ph.D. in Oncology from the Fundação Antônio Prudente - AC Camargo Cancer Center (2014), MSc in Genetics from the Graduate Program in Genetics, Federal University of Paraná (2009) and a degree in Biological Sciences from the Federal University of Paraná (2006). Currently, she is a Scientific Researcher in the Clinical and Functional Genomics Group at the A. C. Camargo Cancer Center, advisor of the Graduate Program in Oncology at the Antônio Prudente Foundation and coordinator of the institution's Research Ethics Committee. Curator member of the Hereditary Cancer Gene Curation Expert Panel group of the ClinGen initiative (Clinical Genome Resource/NIH). She has experience in the areas of Genomics, Molecular Biology and Genetics, with an emphasis on Oncogenetics, Human Genetics, and molecular testing in Oncology. (Source: Lattes Curriculum)
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The genetic diagnosis of individuals at risk for hereditary cancer predisposition syndromes is performed through next-generation sequencing (NGS) of panels containing ten to hundreds cancer predisposition genes (CPGs). A significant part of genetic tests present uncertain results, with the identification of variants of unknown clinical significance (VUS), a finding that represents a major…
Recent advances in genomics have enabled the recognition of several novel cancer predisposing genes. Although genetic screening is currently well established for more common hereditary cancers, there is a number of rare tumors (annual incidence of less than 6 per 100,000 individuals) that are highly associated with cancer syndromes, but are often neglected due to its infrequency. The iden…
Recent advances in genomics have enabled the recognition of several novel cancer predisposing genes. Although genetic screening is currently well established for more common hereditary cancers, there are a number of very rare tumors (annual incidence of less than 6 per 100,000 individuals) that are highly associated with cancer syndromes, but are often neglected due to its infrequency. Th…
Chondrosarcomas (CS) are rare and heterogeneous tumors, characterized by the formation of hyaline cartilaginous neoplastic tissue, and represent around 30% of malignant bone tumors. Around 90% of CS are conventional and the other 10% are rarer subtypes. The most common point mutations in these tumors occur in the IDH1 and IDH2 genes, present in approximately 52-59% of cases, and in the TE…
The use of T cells with chimeric antigen receptors (CAR-T) has revolutionized the treatment of hematologic malignancies. However, applying this approach to solid tumors faces technical challenges, such as the inefficient infiltration of these cells into the tumor microenvironment and the immunosuppressive environment encountered in these tumors. Molecular profiles of CAR-T cells associate…
MUTYH-associated polyposis (MAP) is responsible for 0.7% of all colorectal cancers (CRC) and 13% of all colorectal polyposis. MUTYH gene plays a role in the base excision repair system of DNA, and when it is mutated, leads to GC:TA transversions in several genes, including KRAS and PIK3CA. In CRC, KRAS mutations are observed in 50% of the cases and they are mainly missense mutations in co…
MUTYH-Associated Polyposis (MAP) is an autosomal recessive disease caused by alterations in the MUTYH gene, accounting for 0.7% of all colorectal cancers (CRC) and 13% of colorectal polyposis. The MUTYH gene is part of the DNA base excision repair system and, when mutated, leads to G:C - T:A transversions in several genes, including KRAS, often generating the somatic mutation c.34G>T; G12…
Currently, the genetic diagnosis of individuals at risk for hereditary cancer predisposition syndromes (HCPS) is carried out through the sequencing of a new generation of multigenic panels containing from ten to a hundred cancer predisposition genes (GPC). Recent studies in the literature and in our group show that a small portion of patients with SPHC has pathogenic / probably pathogenic…
(Only some records are available in English at this moment)
In our proposal, we aim to explore Mutographs data to investigate the interplay between germline and somatic genomes from 4,000 patients spanning across 5 continents and encompassing 7 different types of cancer. Our primary objective is to comprehensively examine the role played by germline pathogenic variants (GPVs) in the development of cancer. Firstly, we will investigate the landscape…
| 1 / 1 | Ongoing grants |
| 3 / 2 | Completed research grants |
| 3 / 3 | Ongoing scholarships in Brazil |
| 6 / 6 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
| 14 / 13 | All research grants and scholarships |
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