Following the implementation of the database with the information collected from the patients prioritized for the study, we decided to extend the onset up to 45 years, to include the maximum number of patients in the study, since not for all patients previously selected there were all the biological samples available to perform the complete study as proposed.
With the inclusion of extra patients and the final list completed, we proceeded to send biobanked germline blood DNA samples that were already collected of the first round of patients (23), to the National Center for Genomic Analysis (CNAG) for sequencing.
Simultaneously, we started performing nucleic acid extractions of cryo-preserved biological samples, including DNA from tumoral paraffin-embedded tissue blocks and RNA from lymphocytes. DNA and RNA extractions were performed according to the requirements and guidelines of CNAG for its consequent high-quality sequencing.
