PT  - JOURNAL ARTICLE
AU  - Héctor Climente-González
AU  - Eduard Porta-Pardo
AU  - Adam Godzik
AU  - Eduardo Eyras
TI  - The functional impact of alternative splicing in cancer
AID  - 10.1101/076653
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 076653
4099  - http://biorxiv.org/content/early/2017/08/01/076653.short
4100  - http://biorxiv.org/content/early/2017/08/01/076653.full
AB  - Alternative splicing changes are frequently observed in cancer and are starting to be recognized as important signatures for tumor progression and therapy. However, their functional impact and relevance to tumorigenesis remains mostly unknown. We carried out a systematic analysis to characterize the potential functional consequences of alternative splicing changes in thousands of tumor samples. This analysis revealed that a subset of alternative splicing changes affect protein domain families that are frequently mutated in tumors and potentially disrupt protein protein interactions in cancer-related pathways. Moreover, there was a negative correlation between the number of these alternative splicing changes in a sample and the number of somatic mutations in drivers. We propose that a subset of the alternative splicing changes observed in tumors may represent independent oncogenic processes that could be relevant to explain the functional transformations in cancer and some of them could potentially be considered alternative splicing drivers (AS-drivers).