Assuntos
Povo Asiático/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Análise Mutacional de DNA , Efeito Fundador , Testes Genéticos/métodos , Mutação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteínas Reguladoras de Apoptose , Neoplasias da Mama/etnologia , China , Éxons , Feminino , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Temperatura de Transição , Adulto JovemRESUMO
Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression.
Assuntos
Neoplasias da Mama/genética , Genes BRCA1 , Mutação , Adulto , China , Feminino , Genes BRCA2 , HumanosRESUMO
This article reports the results of a study on the evaluation of the effectiveness of muscle relaxation training in reducing aggressive behavior in mentally handicapped patients (MHPs). A pretest and posttest study design was used. Findings showed that there was a reduction of 14.7% of aggressive behavior in the subjects after the muscle relaxation training. Muscle relaxation training appeared to be effective in reducing the frequency of some aggressive behaviors. The strengths and limitations of using muscle relaxation training in reducing aggressive behaviors are discussed.