A5031407005- BRCA gene mutations in cancer
- Trypanosoma species research and implications
- Nutrition, Genetics, and Disease
- Childhood Cancer Survivors' Quality of Life
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Palliative and Oncologic Care
Universidade Federal da Bahia
2016-2020
Universidade do Estado da Bahia
2020
Fundação Oswaldo Cruz
2020
Instituto de Saúde
2015
Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which associated with the Hereditary Breast Ovarian Cancer (HBOC) syndrome, most frequently affected Recent studies confirm that gene rearrangements, especially BRCA1, responsible for a significant proportion certain populations. In this study we determined prevalence BRCA rearrangements 145 unrelated Brazilian individuals at risk HBOC syndrome who had...
Problema: Embora individualmente raras, somadas, as doenças genéticas têm prevalência global estimada de 31,5 a 73,0 por 1.000 indivíduos. Além disto, e defeitos congênitos representam segunda causa mortalidade infantil no Brasil. Diante deste cenário, foi instituída Política Nacional Atenção Integral às Pessoas com Doenças Raras Sistema Único Saúde. Esta política prevê funções específicas para Primária à Saúde (APS) que incluem diagnóstico precoce mapeamento pessoas ou sob-risco desenvolver...
Abstract Background: Genetic susceptibility to Hereditary Breast and Ovarian Cancer (HBOC) syndrome could be test by the screening of BRCA1 BRCA2 genes. Thus, knowing that each population has its degree heterogeneity Brazilian is one most heterogeneous world, we aimed verify frequency BRCA1/2 founder mutations in high-risk HBOC patients from Bahia, biggest State Northeast Brazil. Methods: It was analyzed DNA 98 unrelated patients, considering criteria NCCN v.1.2010. These were tested for...