Halpern A C, Altman J F
Department of Dermatology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.
Curr Opin Oncol. 1999 Mar;11(2):132-8. doi: 10.1097/00001622-199903000-00010.
Here we review recent insights in the genetics of skin cancer susceptibility as gleaned from studies of three hereditary syndromes: basal cell nevus syndrome, familial melanoma/dysplastic nevus syndrome, and xeroderma pigmentosum. We provide a brief synopsis of the recent findings related to these syndromes in an attempt to illustrate several emerging themes in the genetics of skin cancer. These themes include 1) the recent identification of multiple cancer susceptibility genes that occur in a myriad of cellular regulatory pathways; 2) the relative specificity of certain regulatory pathways to the development of specific types of cancer; and 3) the important role of DNA damage caused by ultraviolet radiation and defective DNA repair mechanisms in the development of skin cancer. We also review the implications of this knowledge to clinical practice relative to risk assessment, primary prevention, and therapy.
在此，我们回顾了从对三种遗传性综合征的研究中获得的皮肤癌易感性遗传学的最新见解，这三种综合征分别是：基底细胞痣综合征、家族性黑色素瘤/发育异常痣综合征和着色性干皮病。我们简要概述了与这些综合征相关的近期发现，以试图阐明皮肤癌遗传学中的几个新出现的主题。这些主题包括：1）最近发现多种癌症易感性基因存在于众多细胞调节途径中；2）某些调节途径对特定类型癌症发生的相对特异性；3）紫外线辐射引起的DNA损伤和有缺陷的DNA修复机制在皮肤癌发生中的重要作用。我们还回顾了这些知识在临床实践中对风险评估、一级预防和治疗的意义。
