Basal Cell Nevus Syndrome in a 9-Year-Old Boy

Adam Taintor, MD


November 02, 2011

SHH and Patched in Basal Cell Nevus Syndrome

Patched[2] is a tumor suppressor whose function is to inhibit the sonic hedgehog (SHH) smoothened proliferation pathway, which is upstream from patched. When SHH binds to patched, the inhibitory effect of patched on smoothened is released and Gli transcription factor proteins upregulate transcription of cellular proliferation genes.

The most common mutation in basal cell nevus syndrome in an inactivating mutation of PTCH so it cannot inhibit smoothened. The SHH/GLI pathway is also implicated in brain, pancreatic, lung, and prostate cancers.


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