A5111771279- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Vascular Malformations and Hemangiomas
- Vascular Tumors and Angiosarcomas
- Genomic variations and chromosomal abnormalities
- Cancer Diagnosis and Treatment
- CNS Lymphoma Diagnosis and Treatment
- Genetic Associations and Epidemiology
- Thyroid Cancer Diagnosis and Treatment
- Science and Education Research
- Biological Research and Disease Studies
- Nutrition, Genetics, and Disease
- Medical Imaging and Pathology Studies
- Eosinophilic Disorders and Syndromes
- Genomics and Rare Diseases
Mendelics
2018-2025
Universidade Federal do Ceará
2024
Genomic (Brazil)
2018
Hospital de Câncer de Barretos
2013
Hospital São Paulo
2013
Background/Objectives: Brazil has a highly admixed population. Polygenic risk scores (PRSs) have mostly been developed from European population studies, and their application to other populations is challenging. To assess the use of PRS for breast cancer (BC) in Brazil, we evaluated four PRSs Brazilian Methods: We analyzed cohort composed 6206 women with history 8878 unphenotyped adults as controls. Genomic variants were imputed exomes, calculated all samples. Results: After individuals...
Introduction: Hepatic epithelioid hemangioendothelioma (HEH) is a rare neoplasm of unknown etiology and guarded prognosis if not diagnosed treated properly. Resection the primary treatment, but it difficult to perform in large multiple tumors, liver transplantation (LT) most commonly used treatment these cases. Objectives: To describe analyze clinical presentation, patients with HEH submitted LT. Methods: Retrospective analysis 8 undergoing LT due two reference hospitals Northeast Brazil....
Introdução: O hemangioendotelioma epitelioide hepático (HEH) é uma neoplasia rara de etiologia desconhecida e prognóstico reservado, caso não diagnosticado tratado adequadamente. A ressecção o principal tratamento, porém difícil realização em tumores grandes múltiplos, sendo transplante (TH) tratamento mais usado nesses casos. Objetivos: Descrever analisar a apresentação clínica, pacientes diagnosticados com HEH submetidos ao TH. Métodos: Análise retrospectiva da do 8 TH devido dois...
Abstract Purpose Brazil has a highly admixed population. Polygenic Risk Scores (PRS) have been mostly developed from European population studies and applying them to other populations is challenging. To assess the use of PRS for breast cancer (BC) risk in Brazil, we validated four PRSs Brazilian Patients Methods We analyzed 6,362 women with history 9,128 unphenotyped adults as controls sample obtained clinical laboratory. Genomic variants were imputed exomes scores calculated all samples....
Pacientes com metástase tireoidiana de carcinoma hepatocelular (CHC) são extremamente raros. Um paciente que realizou transplante hepático devido à recorrência CHC apresentou detectada 4 anos depois. A revisão literatura identificou seis casos documentados, analisando informações relevantes sobre após fígado. Verificou-se a prevalência do vírus da hepatite B (VHB) e C (VHC) como etiologias doença hepática (83,3%), níveis elevados alfafetoproteína (AFP) em cinco casos. Além...
Hepatocellular carcinoma (HCC) patients with metastases to the thyroid are extremely rare. A patient who underwent liver transplantation for HCC recurrence had metastatic detected 4 years later. literature review identi"ed six documented cases, analyzing relevant data on metastasis following transplantation. !ere is a prevalence of hepatitis B virus (HBV ) and C (HCV as etiologies disease (83.3%), alpha-fetoprotein (AFP) levels elevated in "ve cases. Additionally, time between diagnosis was...
e13610 Background: Genetic diversity among populations in the spectrum and frequency of germline variants BRCA1/2 genes has been well documented. It is unclear whether this extends to other breast cancer predisposition genes, particularly Latin American populations, where access genetic testing counseling very scarce. Methods: Study participants included a nationwide sample 1554 Brazilian patients with referred for hereditary panel at single clinical diagnostic laboratory from 2015 through...
10631 Background: Brazil has a highly admixed population with significant Southern European, African and Native American genetic ancestries. Approximately 75% of the two or more continental Therefore, breast cancer polygenic risk scores (PRS) developed in predominantly European populations requires validation Brazilian population. Compared genotyping arrays whole genome sequencing, affordable scalable exome sequencing (WES) allows both rare common variants targeted regions imputation not...