Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
2017
Inactivating mutations in ACTRT1 or surrounding noncoding sequences transcribed into functional
enhancer RNAscause aberrant activation of
Hedgehogsignaling in both sporadic and inherited forms, such as
Bazex–Dupre–Christol syndrome, of
basal cell carcinoma. These findings identify a new
tumor-suppressor geneand
underscorethe functional relevance of genomic alterations in noncoding transcribed regions in tumor development.
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