Lübbe J, Kleihues P, Burg G
Departement Pathologie, Universitätsspital, Zürich.
Hautarzt. 1994 Nov;45(11):741-5. doi: 10.1007/s001050050163.
The product of the p53 tumour suppressor gene is a sequence-specific DNA-binding protein that acts as a transcription factor and can inhibit transformation in vitro. Mutational inactivation of p53 is the most frequent genetic alteration found in human cancer. Point mutations of the p53 gene have been detected in about 50% of squamous cell carcinomas, basaliomas and cases of Bowen's disease. A significant portion of these mutations were CC-->TT or C-->T transitions suggestive of UV involvement in mutagenesis. Increased concentrations of p53 protein were immunohistochemically detected in cutaneous malignant melanomas, but p53 mutations are rare in this tumour.
p53肿瘤抑制基因的产物是一种序列特异性DNA结合蛋白,它作为转录因子发挥作用,并且在体外可抑制细胞转化。p53的突变失活是人类癌症中最常见的基因改变。在约50%的鳞状细胞癌、基底细胞癌和鲍恩病病例中检测到p53基因的点突变。这些突变中有很大一部分是CC→TT或C→T转换,提示紫外线参与诱变过程。在皮肤恶性黑色素瘤中通过免疫组织化学检测到p53蛋白浓度升高,但该肿瘤中p53突变很少见。