EXT2

Overview

EXT2 (exostosin glycosyltransferase 2) encodes a glycosyltransferase required for heparan sulfate biosynthesis and is a known tumor suppressor associated with hereditary multiple exostoses. In cancer pharmacogenomics, EXT2 variants were identified among the genomic features significantly correlated with erlotinib sensitivity in the CCLE pan-cancer profiling study.

Alterations observed in the corpus

  • EXT2 variants are significantly correlated with erlotinib sensitivity across 947 cancer cell lines in the CCLE pharmacogenomic profiling study PMID:22460905

Cancer types (linked)

  • EXT2’s association with erlotinib sensitivity was identified pan-cancer across 947 cell lines of diverse lineages in the CCLE; specific lineage enrichment was not detailed in the corpus PMID:22460905

Co-occurrence and mutual exclusivity

  • EXT2 variants co-occur with EGFR mutations as features of erlotinib-sensitive lines in the CCLE, though the mechanistic relationship is not established PMID:22460905

Therapeutic relevance

  • EXT2 variants predict erlotinib sensitivity in the CCLE pharmacogenomic dataset; the biological mechanism linking EXT2 loss-of-function and EGFR inhibitor sensitivity is not characterised in the corpus PMID:22460905

Open questions

  • The mechanism by which EXT2 variants confer erlotinib sensitivity — potentially via effects on heparan sulfate proteoglycan-mediated receptor signalling — requires experimental validation.

Sources

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