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纽约大都市地区患者结直肠癌中的p53突变

p53 mutations in colorectal cancers in the patients of Metropolitan New York.

作者信息

van den Broek M H, Jhanwar S C, Fodde R, Chaganti R S, Meera Khan P M

机构信息

MGC-Department of Human Genetics, Leiden University, The Netherlands.

出版信息

Anticancer Res. 1993 Sep-Oct;13(5C):1769-72.

PMID:8267380
Abstract

An unselected series of 19 colorectal adenocarcinomas obtained from patients treated by surgery at Memorial Sloan-Kettering Cancer Center (MSKCC), New York, USA was investigated for mutations in exons 5, 6, 7 and 8 of the p53 gene. Ten of the tumors revealed at least one somatic mutation either in the exon 5 or 8. Two of them were found to carry two somatic mutations each. The DGGE pattern of one of these two tumors indicated that it contained two different clonal cell populations; a similar assessment was not possible in the other tumor. Sequence analysis of all the observed variants showed that eighty percent of the mutations were due to transitions and that half of them were at mutational hot spot codons, 175 and 273.

摘要

对从美国纽约纪念斯隆 - 凯特琳癌症中心(MSKCC)接受手术治疗的患者中获取的19例未经过挑选的结肠直肠癌进行了研究,检测p53基因外显子5、6、7和8中的突变情况。其中10例肿瘤在外显子5或8中至少发现了一个体细胞突变。其中两例肿瘤各自携带两个体细胞突变。这两个肿瘤之一的变性梯度凝胶电泳(DGGE)图谱表明它包含两个不同的克隆细胞群体;而在另一个肿瘤中无法进行类似评估。对所有观察到的变异进行序列分析表明,80%的突变是由于转换造成的,其中一半发生在突变热点密码子175和273处。

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