Person: Armisen, Ricardo
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Publication Advances in machine learning for tumour classification in cancer of unknown primary: A mini-review(2024) Oróstica, Karen; Mardones, Felipe; Bernal, Yanara; Molina, Samuel; Orchard, Marcos; Verdugo, Ricardo; Carvajal-Hausdorf, Daniel; Marcelain, Katherine; Contreras, Seba; Armisen, RicardoCancers of unknown primary (CUP) are a heterogeneous group of aggressive metastatic cancers where standardised diagnostic techniques fail to identify the organ where it originated, resulting in a poor prognosis and resistance to treatment. Recent advances in large-scale sequencing techniques have enabled the identification of mutational signatures specific to particular tumour subtypes, even from liquid biopsy samples such as blood. This breakthrough paves the way for the development of new cost-effective diagnostic strategies. This mini-review explores recent advancements in Machine Learning (ML) and its application to tumour classification methods for CUP patients, identifying its weaknesses and strengths when classifying the tumour type. In the era of multi-omics, integrating several sources of information (e.g., imaging, molecular biomarkers, and family history) requires important theoretical advancements: increasing the dimensionality of the problem can result in lowering the predictive accuracy and robustness when data is scarce. Here, we review and discuss different architectures and strategies for incorporating cutting-edge machine learning into CUP diagnosis, aiming to bridge the gap between theory and clinical practice.Publication SKI regulates rRNA transcription and pericentromeric heterochromatin to ensure centromere integrity and genome stability(2025) Pola, Víctor; Carrero, David; Sagredo, Eduardo; Inostroza, Víctor; Cappelli, Claudio; Rivas, Solange; Bitrán, Mirita; Zambrano, Evelyn; Gonzalez, Evelin; Morales, Fernanda; Manterola, Marcia; Montecino, Martín; Armisen, Ricardo; Marcelain, KatherineAccurate chromosome segregation and ribosomal gene expression silencing are essential for maintaining genome integrity, and disruptions in these processes are key for oncogenesis and cancer progression. Here, we demonstrate a novel role for the transcriptional co-repressor SKI in regulating rDNA and pericentromeric heterochromatin (PCH) silencing in human cells. We found that SKI localizes to the rDNA promoter on acrocentric chromosomes and is crucial for maintaining H3K9 trimethylation (H3K9me3) and repressing 45S rRNA gene expression. SKI is also associated with BSR and HSATII satellites within PCH, where is necessary for H3K9 methylation and recruitment of SUV39H1 and HP1α, key players for heterochromatin silencing and centromere function. Consequently, SKI deficiency disrupted centromere integrity and resulted in aberrant chromosome segregation, micronuclei formation, and chromosome instability. The identification of SKI as a key participant in the epigenetic-mediated silencing of pericentromeric and ribosomal DNA provides a fundamental insight, paving the way for new research into the intricate relationship between transcriptional regulation and genome instability during cancer progression, and opening novel opportunities for therapeutic intervention.