This project aims to advance 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), and to replicate the resulting candidate genes in an independent large cohort of cancer patients, building on an innovative MTGS approach.

We propose to advance the bioinformatics algorithms included in this platform in multiple ways: New statistical methods for the identification of rare susceptibility variants, algorithms for the interrogation of intergenic regulatory variants using epigenomic information and integrative analysis of susceptibility variants with somatic driver mutations, a broad range of molecular phenotypes and clinical phenotypes.

In combination, these innovations have the potential to change the way cancer risk is assessed in the clinics, to significantly expand the set of known risk genes and pathways, and to provide a better understanding of their involvement in cancer susceptibility.

Partners involved: Fundación Pública Galega de Medicina Xenómica, Consultorio Dexeus S.A.P, Institut Curie, European Molecular BiologyLaboratory – EMBL, ProteinLogic

Budget: 2.948.185,00 €

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