is responsible for the direct repair of O6-methylguanine lesions induced by alkylating agents, including temozolomide. promoter hypermethylation is a well-established biomarker for temozolomide response in glioblastoma patients, also correlated with therapeutic response in colorectal cancer. The ARETHUSA clinical trial aims to stratify colorectal cancer patients based on their mismatch repair status.
View Article and Find Full Text PDFThis study presents the first data on REY (Rare Earth Elements plus Yttrium) in the aquifer of Mount Etna (Sicily, Italy). Patterns normalized to chondrites indicate strong water-rock interaction, facilitated by a slightly acidic pH resulting from the dissolution of magma-derived CO. REY patterns provide insights into the processes of both mineral dissolution and the formation of secondary phases.
View Article and Find Full Text PDFBackground: Recent advancements in high-throughput genomics and targeted therapies have provided tremendous potential to identify and therapeutically target distinct mutations associated with cancers. However, to date the majority of targeted therapies are used to treat all functional mutations within the same gene, regardless of affected codon or phenotype.
Results: In this study, we developed a functional genomic analysis workflow with a unique isogenic cell line panel bearing two distinct hotspot PIK3CA mutations, E545K and H1047R, to accurately identify targetable differences between mutations within the same gene.
Background: Comprehensive next-generation sequencing is widely used for precision oncology and precision prevention approaches. We aimed to determine the yield of actionable gene variants, the capacity to uncover hereditary predisposition and liquid biopsy appropriateness instead of, or in addition to, tumor tissue analysis, in a real-world cohort of cancer patients, who may benefit the most from comprehensive genomic profiling.
Methods: Seventy-eight matched germline/tumor tissue/liquid biopsy DNA and RNA samples were profiled using the Hereditary Cancer Panel (germline) and the TruSight Oncology 500 panel (tumor tissue/cfDNA) from 23 patients consecutively enrolled at our center according to at least one of the following criteria: no available therapeutic options; long responding patients potentially fit for other therapies; rare tumor; suspected hereditary cancer; primary cancer with high metastatic potential; tumor of unknown primary origin.