Cohen M M
Department of Oral & Maxillofacial Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
Int J Oral Maxillofac Surg. 1999 Jun;28(3):216-23. doi: 10.1034/j.1399-0020.1999.283280314.x.
To understand the molecular biology of the nevoid basal cell carcinoma syndrome, the hedgehog signaling network is explained. The syndrome is caused by mutations in patched, a tumor suppressor gene. A single point mutation in one patched allele may be responsible for the malformations found in the syndrome. Inactivation of both patched alleles results in the formation of tumors and cysts (basal cell carcinomas, odontogenic keratocysts, and medulloblastomas). Several new hypotheses are proposed to account for a minority of nevoid basal cell carcinoma syndrome patients. Evidence is provided to suggest that these hypotheses deserve to be investigated.
为了解痣样基底细胞癌综合征的分子生物学，现将刺猬信号网络进行解释。该综合征由肿瘤抑制基因patched的突变引起。patched一个等位基因中的单点突变可能是该综合征中发现的畸形的原因。两个patched等位基因的失活会导致肿瘤和囊肿（基底细胞癌、牙源性角化囊肿和髓母细胞瘤）的形成。针对少数痣样基底细胞癌综合征患者提出了几种新的假说。有证据表明这些假说值得研究。
