A5018473499- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Hedgehog Signaling Pathway Studies
- Cancer-related Molecular Pathways
- Genomic variations and chromosomal abnormalities
- Renal and related cancers
- Cancer Genomics and Diagnostics
- Ocular Oncology and Treatments
- Cutaneous Melanoma Detection and Management
- Cancer and Skin Lesions
- Cancer Diagnosis and Treatment
- Traditional Chinese Medicine Studies
- Genomics and Rare Diseases
- Chronic Myeloid Leukemia Treatments
- Melanoma and MAPK Pathways
- Neurofibromatosis and Schwannoma Cases
- Acute Myeloid Leukemia Research
- Immunotherapy and Immune Responses
- Epigenetics and DNA Methylation
- Molecular Biology Techniques and Applications
- Vascular Malformations and Hemangiomas
- Ovarian cancer diagnosis and treatment
- Ubiquitin and proteasome pathways
- Palliative and Oncologic Care
- Genetic Syndromes and Imprinting
Instituto Nacional do Câncer
2012-2024
Steadman Philippon Research Institute
2021
Università Campus Bio-Medico
2021
Colorado State University
2021
OASI Bioresearch Foundation
2021
Steadman Clinic
2021
Universidade Federal do Rio de Janeiro
2012-2016
Universidade Federal do Estado do Rio de Janeiro
2002-2016
Royal Prince Alfred Hospital
2013
The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation clinical management strategies, Brazil, there limited access these services, mainly due costs/availability genetic testing. Aiming at identification recurrent that could be included a low-cost mutation panel, used as first screening approach, we compiled testing reports 649 probands with pathogenic/likely pathogenic variants referred 28 public private health care centers distributed across 11 Brazilian...
Abstract Background Approximately 3/4 of ovarian cancers are diagnosed in advanced stages, with the high‐grade epithelial carcinoma (EOC) accounting for 90% cases. EOC present high genomic instability and somatic loss‐of‐function variants genes associated homologous recombination mutational repair pathway (HR), such as BRCA1 BRCA2 , TP53 . The identification germline HR is relevant treatment platinum resistant tumors relapsed therapies based synthetic lethality PARP inhibitors. Patients may...
Cafe-au-lait maculae (CALM) are frequently observed in humans, and usually present as a solitary spot. Multiple CALMs smaller fraction of the population associated with other congenital anomalies part many syndromes. Most these syndromes carry an increased risk cancer development. Previous studies have indicated that minor may be more prevalent children cancer. We investigated prevalence two samples Brazilian patients childhood solid tumors, totaling 307 individuals. Additionally, 176 school...
BACKGROUND: Retinoblastoma (RB) is a malignant pediatric tumor and, mainly because of late diagnosis, most patients undergo enucleation. The almost always initiates by two inactivation events at the RB1 gene. Single nucleotide polymorphisms (SNPs) in p53 pathway have been found to represent g enetic modifiers RB. OBJECTIVE: To investigate whether SNP (rs4938723T > C) mir-34b/c gene, key effector p53, could influence RB risk and patients' age onset. METHODS: rs4938723T C was sequenced 130 105...
Abstract Several studies have demonstrated the cost-effectiveness of genetic testing for surveillance and treatment carriers germline pathogenic variants associated with hereditary breast/ovarian cancer syndrome (HBOC). In Brazil, seventy percent population is assisted by public Unified Health System (SUS), where still unavailable. And few were performed regarding prevalence HBOC in this context. Here, we estimated BRCA1 , BRCA2 TP53 genes Brazilian patients suspected referred to healthcare...
The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) centromeric 2 (KvDMR) genes KCNQ1, KCNQ1OT1 CDKN1C. In this work, we used pyrosequencing MS-MLPA compare methylation patterns DMRH19/KvDMR blood samples from 40 WT patients. Normal constitutional KvDMR indicated DMRH19. Constitutional DMRH19 hypermethylation (HM...
Melanoma is the most lethal skin cancer, and its incidence has increased worldwide. About 10% of cases are classified as hereditary melanoma (HM). CDKN2A CDK4 major high-risk genes. Families also more prone to develop pancreatic different forms oncological surveillance recommended.Describe prevalence CDKN2A/CDK4 germline mutations in melanoma-prone patients their phenotypic histopathological features.A total 69 meeting clinical criteria for HM were included this cross-sectional descriptive...
Twenty children with corpus callosum agenesis or hypoplasia were evaluated under a standardized investigation protocol. Psychomotor retardation, seizures, and craniofacial anomalies the most prominent findings. There three cases of chromosomal anomalies, all them representing trisomy chromosome 8.
Relatar a experiência de uma enfermeira bolsista do Centro Pesquisa INCA em Genética Câncer com o objetivo discutir atuação da mesma no ambulatório genética um Hospital Referência Oncologia, trabalhando otimizar acompanhamento médico dos pacientes, atividade foi desenvolvida métodos variados, tais como observação qualitativa das consultas equipe, pesquisa documental (prontuário eletrônico e físico), aplicação questionário para construção heredogramas coleta termos consentimento livre...
Introdução: A neurofibromatose do tipo 1 (NF1) e uma doença hereditária de caráter autossômico dominante, com reentrância completa relacionada a mutações no gene NF1 (17q11.2). Apresenta expressão extremamente variável predisposição ocorrência tumores. Complicações como neurofibromas viscerais estão presentes em apenas 1% dos casos NF1. Neurofibromas vesicais são raros. Relato caso: O presente caso faz referencia um paciente sexo masculino 4 anos idade que apresentava sinais sintomas...