Splicing and genetic susceptibility to cancer

Pre-mRNA processing or splicing is an essential step of eukaryotic gene expression, where the spliceosome removes introns and exons are sequentially joined . A high proportion of genetic diseases are associated to splicing anomalies of responsible genes. Our main interest is focused on the study of the correlation between aberrant splicing of tumor suppressor genes and susceptibility to breast/ ovarian cancer (BC/OC), as well as the study of the regulatory mechanisms of this process. Hybrid minigenes in splicing reporter plasmids are our main tool in the laboratory, representing a valuable technology for the basic knowledge of splicing regulatory mechanisms as well as to study the correlation between mutation, abnormal transcripts and cancer. Both studies are the priority goalsof our line of research.