DESCRIPTION
The main themes of our research are based on better understand breast cancer development, the emergence of subtypes, and their therapeutic response/resistance. Particularly, our studies are focused on triple-negative (TNBC) and BRCA1-mutated (germline) breast cancer, and resistance to endocrine and mTOR-targeted therapies.
The study of TNBC (and related neoplastic conditions) aims to predict and evaluate therapeutic approaches for this “orphan targeted” subtype. To accomplish this objective, we integrate omic data and model context-specific signaling pathways.
The study of BRCA1-mutated breast cancer is led by key observations that described common genetic variation in HMMR associated with breast cancer risk, and interplay of HMMR-BRCA1 regulating mammary epithelial cell differentiation (Pujana et al., Nature Genetics 2007; Maxwell et al., PLoS Biology 2011; Blanco et al., PLoS One 2015). In this scenario, we aim to test modification of penetrance in vivo, using novel mice models. In parallel, through genome sequencing of resilient cases we aim to identify mutations/variants with large protective effects.
The study of endocrine resistance aims to identify targeted approaches that may overcome or reduce this problem. For this, cellular and PDX models are generated and comprehensively analyzed.
The study of resistance to mTOR inhibition is linked to a better understanding of the mechanism of metastasis and how they may be impaired. This study is also connected to the analysis of rare neoplastic disease appearing almost exclusively in childbearing women and characterized by lung metastatic cells of unknown origin (lymphangioleiomyomatosis, LAM).
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