UV-specific mutations of the human patched gene in basal cell carcinomas from normal individuals and xeroderma pigmentosum patients
L Daya-Grosjean, A Sarasin - Mutation Research/Fundamental and …, 2000 - Elsevier
Germline mutations of the human patched gene, PTCH, are responsible for the nevoid basal
cell carcinoma (NBCC) syndrome or Gorlin's syndrome, characterized by multiple skin
cancers, internal cancers and severe developmental abnormalities. The patched gene
codes for a developmental regulator protein implicated in the sonic hedgehog (SHH)
signalling pathway which plays an important role in oncogenic transformation. Patched
exhibits tumor suppression function and has been shown to be mutated in skin cancers …
cell carcinoma (NBCC) syndrome or Gorlin's syndrome, characterized by multiple skin
cancers, internal cancers and severe developmental abnormalities. The patched gene
codes for a developmental regulator protein implicated in the sonic hedgehog (SHH)
signalling pathway which plays an important role in oncogenic transformation. Patched
exhibits tumor suppression function and has been shown to be mutated in skin cancers …
