Deciphering the genetic complexity of hereditary cancer through a multidimensional analysis of a custom panel of genes: Analysis in the GCAT cohort
- Research Leader:
- Dra.Conxi Lázaro
- GCAT Input:
- Research co-leader Dr. Eduard Serra, Dr. Rafael de Cid, Dr. Manuel Perucho
Next Generation Sequencing enables the study of multiple genes associated with hereditary cancer and improves diagnosis in families with negative results for commonly studied genes. However, phenotypes and risks associated with several of the genes included in the panels are not well known. The main aim of this project is to improve clinical applicability of multi-gene panels in the setting of hereditary cancer. To this end, we will seek to improve mutation detection yield while determining genotype-phenotype relationships and their associated risks. To achieve these goals, we will analyze our own designed panel including 126 genes -21 of which have been selected for diagnostic use - and 43 risk SNPs in a large cohort. The prevalence of mutations found in one or multiple genes and their associated phenotypes will be elucidated.