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The new mutation may allow public health programs to refine inherited cancer risk screening for individuals in Brazil who also have the TP53-R337H mutation.
An analysis of pediatric cancer survivors suggests subsequent neoplasm risk can increase after certain genotoxic treatments in those with DNA repair gene changes.
The study suggested that ALL glucocorticoid resistance stemming from alterations that drive down CELSR2 levels might be combated with the BCL2-targeting drug venetoclax.
At the NCI's Childhood Cancer Data Initiative Symposium, speakers emphasized measures such as data harmonization and the need for longitudinal data collection.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
St. Jude investigators are sharing their WGS cancer data through the St. Jude Cloud, as well as tools and pipelines to help other researchers analyze and use it.
Combined DNA/RNA-seq efforts in various settings could lead to new ways of treating kids with drugs meant for adults or to the development of new therapies.
The actual match rate is significantly higher than the 10 percent rate the researchers anticipated they would see when the study began in 2017.
Starting with samples from an 11-year-old boy with spitzoid melanoma, researchers identified recurrent MAP3K8 fusions that may respond to MEK inhibitors.