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乳腺癌中18号染色体的体细胞遗传改变:DCC基因是否参与其中?

Somatic genetic changes on chromosome 18 in breast carcinomas: is the DCC gene involved?

作者信息

Devilee P, van Vliet M, Kuipers-Dijkshoorn N, Pearson P L, Cornelisse C J

机构信息

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

出版信息

Oncogene. 1991 Feb;6(2):311-5.

PMID:2000224
Abstract

Recently, a gene has been isolated from the long arm of chromosome 18 which was shown to be frequently deleted in colorectal carcinomas and hence designated the DCC gene (Fearon et al., 1990). To explore the possible involvement of this gene in breast cancer, we have used 5 polymorphic DNA markers (one for 18p, and four for 18q) to examine the status of chromosome 18 in 49 primary breast carcinomas by comparing the genotypes of lymphocyte and tumour DNA samples. Imbalance of alleles, resulting in allelic loss of duplication, was observed in 17 cases (38% of informative cases). In 13 of these, this imbalance included the locus D18S8 located within the DCC gene region. In the remaining 4 cases this locus was not involved, with the affected chromosome region mapping proximally of D18S8 in 3 cases, and distally in 1 case. These results indicate that chromosome 18 is rearranged in breast cancer more frequently than is expected on the basis of cytogenetic data alone, and warrant a closer inspection of the DCC gene in this tumour.

摘要

最近,从18号染色体长臂分离出一个基因,该基因在结肠直肠癌中常被缺失,因此被命名为DCC基因(费伦等人,1990年)。为了探究该基因在乳腺癌中的可能作用,我们使用了5个多态性DNA标记(一个用于18p,四个用于18q),通过比较淋巴细胞和肿瘤DNA样本的基因型,来检测49例原发性乳腺癌中18号染色体的状态。在17例病例(占信息可分析病例的38%)中观察到等位基因失衡,导致等位基因缺失或重复。其中13例中,这种失衡包括位于DCC基因区域内的D18S8位点。在其余4例中,该位点未受影响,3例受影响的染色体区域位于D18S8近端,1例位于远端。这些结果表明,18号染色体在乳腺癌中的重排比仅基于细胞遗传学数据预期的更为频繁,因此有必要对该肿瘤中的DCC基因进行更深入的研究。

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