Tackling current challenges in the genetic diagnosis of hereditary cancer through integrative analysis of molecular, clinical and population data

ABOUT THE PROJECT

This research project aims at advancing in hereditary cancer diagnostics by the generation of scientific evidence from a diversity of methodological approaches. Our main goal is to implement new testing methodologies and develop new useful tools to be used by the diagnostics community for the benefit of hereditary cancer patients as well as their health providers. To take full advantage of our in-house developed I2HCP-NGS panel consisting in 135 genes responsible for a comprehensive list of hereditary cancer syndromes. Up to now only phenotype-driven subsets of about a dozen of these genes have been analyzed in a clinical context in a cohort of more than 2000 patients suspicious of different forms of hereditary cancer.

We will compare our current panel-Illumina sequencing strategy with the use of Nanopore sequencing. We will also investigate the use of the germ-line panel for tumor analysis with the aim of identifying somatic mutations as biomarkers for targeted therapeutic options as well as to investigate cases of suspicion of somatic mosaicism; we will also use it to analyze tumors of patients carrying germline VUS. Last, one of the major goals of the present project is the creation of a national database (Spanish Hereditary Cancer Database) to collect and classify gene variants in hereditary cancer all over Spain with the participation of SEOM & AEGH national societies.