Publications by authors named "Ana Maria Varela"
Nasopharyngeal carcinoma (NPC) has extremely skewed ethnic and geographic distributions, is poorly understood at the genetic level and is in need of effective therapeutic approaches. Here we determined the mutational landscape of 128 cases with NPC using whole-exome and targeted deep sequencing, as well as SNP array analysis. These approaches revealed a distinct mutational signature and nine significantly mutated genes, many of which have not been implicated previously in NPC.
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- Esophageal squamous cell carcinoma (ESCC) is a widespread cancer, especially in some Asian regions, and the study analyzed 139 paired ESCC cases using whole-exome sequencing and somatic copy number variations (SCNV).
- Researchers identified new mutated genes like FAT1, FAT2, ZNF750, and KMT2D alongside established ones like TP53 and PIK3CA, indicating significant genetic alterations in ESCC.
- The study highlighted critical dysregulated pathways related to cancer, identified potential drug targets like XPO1, and emphasized the discovery of novel genetic changes that could inform future treatments for esophageal tumors.