NO GERMLINE TP53 MUTATIONS DETECTED IN FAMILIAL AND BILATERAL TESTICULAR CANCER
NO GERMLINE TP53 MUTATIONS DETECTED IN FAMILIAL AND BILATERAL TESTICULAR CANCER
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DOI：
10.1002/gcc.2870060205
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发表时间：
1993-02-01
影响因子：
3.7
通讯作者：
BORRESEN, AL
中科院分区：
文献类型：
--
作者：
HEIMDAL, K;LOTHE, RA;BORRESEN, AL
TP53 基因突变被认为是人类癌症中最常见的遗传改变之一，体细胞突变和种系突变均已被发现。使用聚合酶链反应 (PCR)、恒定变性凝胶电泳 (CDGE) 和变性梯度凝胶电泳 (DGGE)，我们检查了 32 名双侧和家族性生殖细胞肿瘤 (GCT) 患者和两名散发性 GCT 患者的基因保守区域内的种系突变。此外，还对 15 个肿瘤进行了体细胞突变筛查，并分析了 TP53 基因座的杂合性缺失 (LOH)。通过免疫组织化学分析了 12 个肿瘤的 TP53 表达。种系和体细胞 TP53 均未检测到。在五个信息丰富的案例之一中观察到了 LOH。没有肿瘤显示TP53蛋白表达增加。这些结果表明 TP53 基因的改变对于 GCT 的易感性和发展并不重要。
Mutations in the TP53 gene are considered to be among the most common genetic alterations in human cancers Both somatic and germline mutations have been found. Using polymerase chain reaction (PCR), constant denaturant gel electrophoresis (CDGE), and denaturing gradient gel electrophoresis (DGGE), we have examined 32 patients with bilateral and familial germ cell tumors (GCT) and two patients with sporadic GCT for germline mutations within the conserved regions of the gene. In addition, 15 tumors were screened for somatic mutations and analyzed for loss of heterozygocity (LOH) at the TP53 locus. Twelve tumors were analyzed for expression of TP53 via immunohistochemistry. Neither germline nor somatic TP53 were detected. LOH was observed in one of five informative cases. No tumors showed increased expression of TP53 protein. These results indicate that alterations in the TP53 gene are not important for the predisposition to and development of GCT.