WE WANT TO FIGHT AGAINST THE INHERITANCE OF CANCER USING BIOINFORMATICS
With the PanCanRisk project we try to expand scientific horizons in this area of health and chart a new course for the entire field of cancer research to point the way to more effective individualized approaches.
Cancer susceptibility variants have not been studied extensively at a genome wide scale, which is clearly visible when comparing the number of somatic driver genes and germline susceptibility genes in the COSMIC database, (>400 vs. <100). Our proposal aims to close this gap, advancing the knowledge on the landscape of susceptibility variants and genes across several cancers in large cohorts of patients.
To this end, we have the ambitious goal to mine the pan cancer panel of the International Cancer Genome Consortium (ICGC)/The Cancer Genome Atlas (TCGA), encompassing 2,000 WGS and 8,000 WES or cancer cases across more than 12 cancer types and to replicate the resulting candidate genes in an independent large cohort of cancer patients, building on an innovative MTGS approach.
This effort requires new methods that need to be equally suited for the analysis of large cohorts of patients (pan-cancer study), as well as for the application in clinical settings (diagnostic analysis using MGTS at DEXEUS and Fundación Pública Galega de Medicina Xenómica).
We propose to advance the bioinformatics algorithms included in this platform in multiple ways: