Kilgour James M, Jia Justin L, Sarin Kavita Y
Department of Dermatology, Stanford University School of Medcine, Stanford, CA 94305, USA.
Cancers (Basel). 2021 Jul 31;13(15):3870. doi: 10.3390/cancers13153870.
Basal cell carcinoma (BCC) is a significant public health concern, with more than 3 million cases occurring each year in the United States, and with an increasing incidence. The molecular basis of BCC is complex, involving an interplay of inherited genetic susceptibility, including single nucleotide polymorphisms and genetic syndromes, and sporadic somatic mutations, often induced by carcinogenic exposure to UV radiation. This review outlines the currently known germline and somatic mutations implicated in the pathogenesis of BCC, including the key molecular pathways affected by these mutations, which drive oncogenesis. With advances in next generation sequencing and our understanding of the molecular genetics of BCC, established and emerging targeted therapeutics are offering new avenues for the non-surgical treatment of BCC. These agents, including Hedgehog pathway inhibitors, immune modulators, and histone deacetylase inhibitors, will also be discussed.
基底细胞癌（BCC）是一个重大的公共卫生问题，在美国每年有超过300万例病例，且发病率呈上升趋势。BCC的分子基础很复杂，涉及遗传易感性的相互作用，包括单核苷酸多态性和遗传综合征，以及散发性体细胞突变，这些突变通常由致癌性紫外线辐射暴露诱发。本综述概述了目前已知的与BCC发病机制相关的种系和体细胞突变，包括受这些突变影响的关键分子途径，这些途径驱动肿瘤发生。随着下一代测序技术的进步以及我们对BCC分子遗传学的理解，已有的和新兴的靶向治疗方法为BCC的非手术治疗提供了新途径。还将讨论这些药物，包括 Hedgehog 信号通路抑制剂、免疫调节剂和组蛋白去乙酰化酶抑制剂。
