Rodrigo Dienstmann

This study links EPAS1HIF2 genetic adaptations in high-altitude populations to similar mutations in hypoxia-driven tumors, showing shared mechanisms in hypoxia response and tumorigenesis.

This study evaluates homologous recombination repair status in metastatic prostate cancer using next-generation sequencing and RAD51 immunofluorescence assays, finding strong correlation between genomic and functional HRR loss.

The paper identifies RBMS1 as a suppressor of colon cancer metastasis by stabilizing its mRNA targets, showing its clinical relevance in patient survival.

The paper harmonizes clinical interpretations of cancer genomic variants across six knowledgebases, improving overlap and matching with patient cohorts.

This study identifies genomic and transcriptomic traits associated with immune-phenotypes in 9,403 solid tumors across 29 cancers, revealing patterns linked to immune evasion and tumor progression.

The paper quantifies proteomic and genomic variation in colorectal cancer cell lines to understand how mutations affect protein levels and drug responses.

CIViC is a knowledgebase that crowdsources expert input to interpret the clinical significance of cancer variants, providing open-access resources for precision medicine.