Article
Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC.
Oncogene - 27 Jan 2005
Barnes Elizabeth A, Heidtman Keely J, Donoghue Daniel J
Abstract excerpt
Mutations in the transmembrane receptor patched1 (ptc1) are responsible for the majority of basal cell carcinoma (BCC) cases. Many of these mutations, including ptc1-Q688X, result in premature truncation of the ptc1 protein. ptc1-Q688X has been identified in patients with both BCC and nevoid basal cell carcinoma syndrome, an inheritable disorder causing a predisposition to cancer susceptibility. Here we describe...
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