Our research focuses on understanding how genetic diversity provides insights into the predisposition to cancer and how somatic genomic aberrations contribute to tumor progression. As we learn more about the complexity of the human genome from programs like the HapMap and ENCODE projects, it becomes evident that our understanding of genetic diversity is incomplete. Structural variants, specifically in the form of Copy Number Variants (CNVs), add to the genomic diversity encoded in single DNA base-pair difference (Single Nucleotide Polymorphism, SNPs) and may contribute to cancer susceptibility. Genetic diversity and somatic mutations provide cancer a selective advantage to develop and progress.
In a highly interdisciplinary and systems biology framework, our group contributes to the understanding of the genomic complexity, which defines human tumors and of the involvement of inherited genetic make-up through the development and application of computational tools. Our group is currently working on Whole Genome and Whole Exome Sequencing data of prostate cancer in collaboration with Weill Cornell Medical College and the Broad Institute and Weill Cornell Medical College. Methodological work is dedicated to the assessment of tumor evolution through clonality and sub-clonality quantification.
We are also designing, implementing and analyzing validation studies using human samples collected from the Harvard/Michigan/Cornell Early Detection Research Network clinical trial (U.S.A.) and the Tyrol Prostate Specific Antigen Screening Trial (Austria).
Specific projects include:
- Towards Understanding the Genetic Predisposition for Signaling Pathway Activation in Aggressive Prostate Cancer (funded by The Department of Defense, USA)
- Functional Validation of Prostate Cancer Driving Mutations (funded by The Department of Defense, USA, Synergy Award)
- Comprehensive Prostate Cancer Characterization by Genomic and Transcriptomic Profiling (funded by NIH)
- Identification and functional characterization of inherited CNVs at a single locus and at biological pathway level.
- Population based prostate cancer susceptibility study on the Tyrol Early Prostate Cancer Detection Program.
- Recurrent genomic alterations as biomarkers predictive of the response to brachytherapy treatment in prostate cancer patients (funded by the Fondazione Trentina per la Ricerca sui Tumori)