Basal Cell Nevus Syndrome
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Basal Cell Nevus Syndrome (BCNS) (also known as Gorlin Syndrome) is a rare autosomal dominant disorder associated with basal cell skin cancers and other features. The incidence of BCNS reportedly varies from 1 in 57,000 to 1 in 256,000 . The mutation associated with BCNS is in the PTCH1 gene, a tumor suppressor gene, which plays an important role during embryogenesis affecting cell proliferation, differentiation and cell fate. PTCH mutations have high penetrance but variable phenotypic expression .