Group for Translational Genomics in Solid Tumors (Dr Samuel Peña-Llopis)
Cancer can be broadly defined as a variety of remarkably complex diseases caused by the accumulation of genomic and epigenetic modifications, such as mutations and chromatin alterations, which can be fatal when metastatic. After completion of the human genome sequencing early this century, sequencing costs are dropping drastically. However, genomic big data analyses are still challenging. Our main aim is to further understand the cancer genomics associated with tumor development and metastasis to ultimately identify potential therapies to be translated into the clinic.
We have developed a methodology to obtain high-quality DNA, RNA, non-coding RNA and proteins from solid tumors, as well as downstream bioinformatics analyses. This approach was instrumental to establish the classification of most kidney cancer patients based on the mutual exclusivity in mutations (or inactivations) of two tumor suppressor genes, BAP1 and PBRM1, resulting in biomarkers of different prognosis. This is currently enabling the design of more personalized treatments.
Future Projects and Goals:
We focus our research on understanding the tumor aggressiveness and metastasis caused by mutations in the deubiquitinase and epigenetic modifier BAP1 in kidney cancer and uveal melanoma. In addition, we are trying to identify vulnerabilities of tumors with mutations in epigenetic modifier genes that could be exploited therapeutically. To accomplish this, we are developing state-of-the-art technologies, such as mouse models of metastasis and patient-derived organoids as pre-clinical models. Notably, we are extensively collaborating with other groups interested in specific associations of cancer genomics with clinical data.