Giunta C, Youil R, Venter D, Chow C W, Somers G, Lafferty A, Kemper B, Cotton R G
Murdoch Institute, Melbourne, Australia.
Diagn Mol Pathol. 1996 Dec;5(4):265-70. doi: 10.1097/00019606-199612000-00007.
The p53 tumor suppressor gene is the most commonly altered gene in human cancers. Germline mutations in p53 are the genetic alteration underlying predisposition to multiple cancers in Li-Fraumeni syndrome and Li-Fraumeni-like syndrome. We describe a patient who presented with developed adrenocortical carcinoma at age 19 months and a cerebral primitive neuroectodermal tumor at age 5 years. The patient did not have a family history of cancer. We used the enzyme mismatch cleavage (EMC) method to screen for mutations in the p53 gene and found a germline mutation in exon 7 (codon 248). Loss of heterozygosity analysis in one tumor revealed loss of the wild-type p53 allele. In our report we demonstrate the EMC method to be a rapid and sensitive method for mutation detection.
p53肿瘤抑制基因是人类癌症中最常发生改变的基因。p53的种系突变是李-弗劳梅尼综合征和李-弗劳梅尼样综合征中多种癌症易感性的潜在遗传改变。我们描述了一名患者，该患者在19个月大时患肾上腺皮质癌，5岁时患脑原始神经外胚层肿瘤。该患者没有癌症家族史。我们使用酶错配切割（EMC）方法筛选p53基因中的突变，发现外显子7（密码子248）存在种系突变。对一个肿瘤进行的杂合性缺失分析显示野生型p53等位基因缺失。在我们的报告中，我们证明EMC方法是一种快速且灵敏的突变检测方法。
