肿瘤的发生是一个多因素、多阶段的综合作用过程,癌基因的激活与抑癌基因的失活被公认为其中的重要因素。近年Alexander及David分别发现一种新的抑癌基因(p16基因)已成为当前研究的热点。p16基因在人类多种原发性肿瘤和细胞系中均发生变异,如神经胶质瘤、黑色素瘤、头颈部肿瘤、肺癌、食管癌、膀胱癌、胰腺癌、肾肿瘤、乳腺癌、卵巢癌、白血病、淋巴瘤、成骨肉瘤等,突变率均为30%～80%不等,主要变异形式有纯合性缺失、杂合性丢失、点突变、移码突变、甲基化等。 The occurrence of tumor is a multi-factor and multi-stage comprehensive process. Activation of oncogenes and inactivation of tumor suppressor genes are recognized as important factors. In recent years, Alexander and David have discovered a new tumor suppressor gene (p16 gene) has become a hot topic of current research. The p16 gene is mutated in many human primary tumors and cell lines, such as glioma, melanoma, head and neck cancer, lung cancer, esophageal cancer, bladder cancer, pancreas cancer, kidney tumor, breast cancer, ovary Cancer, leukemia, lymphoma, osteosarcoma, etc., mutation rate are 30% to 80%, the main variants are loss of homozygosity, loss of heterozygosity, point mutations, frameshift mutations, methylation and so on.