ABSTRACT
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.
Subject(s)
Breast Neoplasms/genetics , Genes, BRCA1 , Mutation , Adult , China , Female , Genes, BRCA2 , HumansSubject(s)
Asian People/genetics , BRCA2 Protein/genetics , Breast Neoplasms/genetics , DNA Mutational Analysis , Founder Effect , Genetic Testing/methods , Mutation , Adolescent , Adult , Aged , Aged, 80 and over , Apoptosis Regulatory Proteins , Breast Neoplasms/ethnology , China , Exons , Female , Genetic Predisposition to Disease , Humans , Middle Aged , Predictive Value of Tests , Transition Temperature , Young AdultABSTRACT
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.