Identificación de mutaciones en genes de predisposición al cáncer hereditario en mama, ovario y colorrectal

The purpose of our study is to identify mutations in genes predisposed to hereditary breast, ovary and colorectal cancer. The patients were selected from a genetic cancer clinic, where they were informed of the study and signed the corresponding informed consent. In patients who fulfill high or medium risk selection criteria for breast /ovary cancer the BRCA1 and BRCA2 genes are analyzed; the patients who fulfill Amsterdam criteria are selected for the study of MLH1, MSH2 and MSH6 genes involved in hereditary nonpolyposis colon cancer. The analysis of these genes is made by means of DNA extraction of peripheral blood lymphocytes, multiplex- PCR of the exon regions, heteroduplex analysis by capillary array electrophoresis (HA-CAE) and automatic sequencing of altered patterns. The alterations found are communicated by means of a written report to the genetic cancer clinic where the patient is informed of the result and given advise.