Chromosome 9 mutations reported absent in some patients with Basal Cell Carcinoma Nevus Syndrome

Basal Cell Carcinoma Nevus Syndrome (BCCNS), also known as Gorlin syndrome, is a rare autosomal dominant condition with a substantial disease burden, thought to occur secondary to chromosome 9 mutation evoking a Hedgehog (Hh) signaling aberration that leads to early development of numerous basal cell carcinomas (BCCs). Individuals with BCCNS also present with keratocystic odontogenic tumors, medulloblastomas, and palmar or plantar pits1. This condition demonstrates variable expressivity, leading to differing phenotypes, even within the same family2. BCCNS diagnosis requires meeting two major or one major and two minor criteria (Table 1) or presence of Chromosome 9 and/or PTCH1 mutations1.

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