Trasmisión genética del cáncer en ExtremaduraValor pronóstico del consejo genético

Abstract

The advance in knowledge of the human genome, can explain the appearance of certain cancers grouped in the same family. The identification, early, high-risk people allows them to be addressed in a different way, from an individualized assessment of the risk of developing cancer, to strategies for prevention, treatment and appropriate follow-up risks. The SCMOH is the most common of the SPCs. The CM caused by inherited mutations in BRCA1 or BRCA2 differ from sporadic and family not caused by these genes in their morphological, immunophenotypic and molecular, therefore, the selection of individuals and families in which there is a reasonable probability is required detecting an alteration or the consequences of the study may be clinically beneficial. The BRCAs genes in patients with CMO and family history, received attention at the high risk and Hereditary Cancer University Hospital Infanta Cristina de Badajoz analyzed. The studies were performed in cases that met the criteria for high-risk HBOC. A descriptive study of the population at risk our health area describing the different variables is performed. It is not possible to identify the responsible mutation in 75-80% of families meeting for SCMOH criteriosde AR. Women who belong to high-risk families in which has not been able to detect a pathogenic mutation should individualize their seguimento according to their accumulated lifetime risk.