RESUMEN
Triple-negative breast cancer is defined by the lack of expression of estrogen-receptor, progesterone-receptor, and HER-2/neu. It primarily, but not exclusively, carries the basal-like molecular profile on gene expression arrays and is associated with BRCA-1 and p53 mutations. It has an aggressive behavior and predilection for visceral metastasis, therefore accounting for its poor prognosis. Despite lacking targeted therapies, it is sensitive to anthracyclines and taxanes. Increasing knowledge has generated a better understanding of its pathophysiology, therefore leading to the development of directed therapies, although their validation still needs further investigation. This review focuses on its biology, management, evolving concepts, and future directions.
Asunto(s)
Neoplasias de la Mama/genética , Receptor ErbB-2/deficiencia , Receptores de Estrógenos/deficiencia , Receptores de Progesterona/deficiencia , Inhibidores de la Angiogénesis/uso terapéutico , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/patología , División Celular , Resistencia a Antineoplásicos/genética , Femenino , Regulación Neoplásica de la Expresión Génica , Marcadores Genéticos , Humanos , Queratinas/genética , Fenotipo , Receptor ErbB-2/genética , Receptores de Estrógenos/genética , Receptores de Progesterona/genéticaAsunto(s)
Herpesvirus Humano 4/metabolismo , Linfoma de Células B/inmunología , Linfoma de Células B Grandes Difuso/diagnóstico , Linfoma de Células B Grandes Difuso/metabolismo , Linfoma de Células B Grandes Difuso/virología , Linfoma de Células T Periférico/diagnóstico , Linfoma de Células T Periférico/virología , Anciano , Biopsia , Antígenos CD4/biosíntesis , Antígenos CD8/biosíntesis , Proliferación Celular , Diagnóstico Diferencial , Femenino , Humanos , Sistema Inmunológico , Enfermedades Linfáticas/patología , Linfoma de Células B/terapia , Linfoma de Células T Periférico/metabolismoRESUMEN
The genetic variation of human butyrylcholinesterase has been associated with height, body mass index, Alzheimer's disease, and response to xenobiotic agents. The present study reports four new mutations, found in the exon 2 of the BCHE gene, in a sample from 3001 Brazilian blood donors. The three nonsynonymous mutations and one synonymous mutation detected are: 223G-->C, G75R; 270A-->C, E90 D; 297T-->G, I99 M; 486T-->C, A162 A, respectively. All these variants are rare: 0.093+/-0.093% for the missense mutations and 0.137+/-0.137% for the synonymous mutation. A table with the 58 non-usual variants of butyrylcholinesterase is also presented.