IP: Dr. Ángel Carracedo Álvarez

Resumen del proyecto: The availability of high-throughput genotyping allows the study of the complex diseases, as colorectal cancer (CRC), by means of genome wide association studies (GWAS) using SNPs. Results obtained demonstrate that part of the inherited risk of CRC is mediated through common alleles. However, the associations found are modest and they could not explain the heritability that CRC exhibits. These studies have not evaluated the contribution of other forms of genetic variation, such as structural variation, mainly in the form of copy number variant (CNVs). Recently, it has been reported that CNVs show associations with complex disorders. CRC is a health problem in developing countries, prevention and possibly treatment of disease based on genetic testing is essential. The identification of new common genetic variants will allow people at increased genetic risk of benefit of preventive screening.
The aim of this project is to analyze the genetic contribution of CNVs to familial and sporadic CRC by means of a genome wide association study using CNVs. Patients with CRC collected within the EPICOLON consortium will be analyzed using commercial arrays covering CNVs.

Entidad financiadora: Instituto de Salud Carlos III