GetMutationInfo / dev /mutation_effect_summary.txt
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e096153
Here is a summary of the abstracts, focusing on the IDH2 gene:
IDH2 mutations are a common feature of various cancers, including gliomas, acute myeloid leukemia, and chondrosarcoma. In gliomas, IDH2 mutations are often found in combination with IDH1 mutations, and are associated with distinct clinical features. The IDH2 gene encodes a cytoplasmic and mitochondrial enzyme that catalyzes the conversion of isocitrate to α-ketoglutarate. Mutations in IDH2 result in the production of the oncometabolite D-2-hydroxyglutarate, which has profound effects on epigenetic, differentiation, and metabolic programs.
In gliomas, IDH2 mutations are more commonly found in lower-grade gliomas, particularly in combination with 1p/19q codeletion. IDH2 mutations are also associated with a better prognosis compared to IDH1 mutations. The IDH2 gene is a key therapeutic target, and small molecule inhibitors of mutant IDH2 enzymes are being developed for the treatment of IDH2-mutated cancers.
Overall, IDH2 mutations play a crucial role in the development and progression of various cancers, and targeting IDH2 mutations with small molecule inhibitors shows promise as a therapeutic approach.