Severe PTCH1 deficiency in cancer-prone Gorlin patient cells results in intrinsic radiosensitivity

Gorlin syndrome is a typical case of debated hyper-sensitivity to radiation, although it is well-recognized as a cancer-prone disorder. The present data reveal that only Gorlin cells presenting severe deficiency in PTCH1 gene expression exhibited significantly increased cellular radiosensitivity, and that the PATCHED1 protein had a direct role in regulating intrinsic radiosensitivity, after both high and low radiation doses. This may provide a basis for prognostic screens for radiosensitive Gorlin patients with PTCH1 mutations.

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