【佳学基因检测】p53 突变与 24 种头颈癌细胞系的放射敏感性无关

夫妻备孕基因检测项目要点

体会肿瘤基因解码协会如何提升基因检测的正确性记录《Cancer Res》在. 1993 Aug 15;53(16):3667-9.发表了一篇题目为《p53 突变与 24 种头颈癌细胞系的放射敏感性无关》肿瘤靶向药物治疗基因检测临床研究文章。该研究由D G Brachman , M Beckett, D Graves, D Haraf, E Vokes, R R Weichselbaum等完成。促进了肿瘤的正确治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤临床大数据研究内容关键词：

放射性治疗,敏感性,P53,抑癌基因,损伤修复, G1 期阻滞

肿瘤靶向治疗基因检测临床应用结果

肿瘤对治疗性放射反应的分子基础知之甚少。基因解码的证据表明，p53 抑癌基因可能与 X 射线照射导致 DNA 损伤后出现的 G1 期阻滞有关。进一步提出，缺乏 p53 检查点功能的肿瘤细胞可能对 X 射线照射的细胞杀伤更敏感，因为尽管 DNA 损伤未修复，这些细胞仍进入 S 期。个性化化射性治疗基因检测通过将 2 Gy 的体外存活分数与 24 个头颈部鳞状细胞癌细胞系的突变状态相关联，检验了具有 p53 突变的肿瘤细胞对放射线更敏感的假设。 24 个肿瘤中有 15 个（63%）存在 p53 突变；都是在外显子 5-9 内发生的纯合变化。突变组在 2 Gy 时的存活分数为 0.568，而无突变肿瘤组的存活分数为 0.507（P = 0.28，Mann-Whitney 检验）。此外，没有注意到放射敏感性与突变类型、密码子位置或预测的氨基酸改变之间的关联。放射疗法基因检测的数据不支持 p53 基因改变使肿瘤细胞易于通过辐射增加细胞杀伤的假设。

肿瘤发生与反复转移国际数据库描述：

The molecular basis of tumor response to therapeutic radiation is poorly understood. Recent evidence suggests the p53 tumor suppressor gene may be involved in production of the G1 arrest seen following DNA damage by X-irradiation. It has further been proposed that tumor cells lacking the p53 checkpoint function are likely to be more sensitive to cell killing by X-irradiation because these cells enter S phase despite unrepaired DNA damage. We tested the hypothesis that tumor cells with p53 mutations are more radiosensitive by correlating the in vitro surviving fraction at 2 Gy with the mutational status of 24 head and neck squamous cell cancer cell lines. p53 mutations were present in 15 of 24 (63%) of tumors; all were homozygous changes occurring within exons 5-9. The surviving fraction at 2 Gy for the group with mutations was 0.568 compared to 0.507 for tumors without mutations (P = 0.28, Mann-Whitney test). Furthermore, no association between radiosensitivity and mutational type, codon location, or predicted amino acid alteration was noted. Our data do not support the hypothesis that p53 gene alteration predisposes tumor cells to increased cell killing via radiation.