13号染色体q12-q13区域BRCA2基因座处散发性乳腺肿瘤的杂合性缺失
Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13.
作者信息
Cleton-Jansen A M, Collins N, Lakhani S R, Weissenbach J, Devilee P, Cornelisse C J, Stratton M R
机构信息
Department of Pathology, University of Leiden, The Netherlands.
出版信息
Br J Cancer. 1995 Nov;72(5):1241-4. doi: 10.1038/bjc.1995.493.
Loss of heterozygosity (LOH) on chromosome 13 occurs on 25-30% of breast tumours. This may reflect the inactivation of the retinoblastoma susceptibility gene RB1. However, recently another candidate tumour-suppressor gene has been identified on chromosome 13 by linkage analysis, the breast cancer susceptibility gene BRCA2. To investigate the involvement of BRCA2 in sporadic breast cancer 200 breast tumours were tested for LOH on chromosome band 13q12-q14, using 11 highly polymorphic microsatellite markers. LOH was found in 65 tumours, which all showed simultaneously loss of BRCA2 and RB1. Of 12 breast tumour cell lines tested with polymorphic microsatellite markers, seven showed a contiguous region of homozygosity on 13q12-q14, suggesting LOH in the tumour from which the cell line had been derived. One cell line showed homozygosity in the BRCA2 region and heterozygosity at RB1. This is the only indication that BRCA2 is a distinct target for LOH on chromosome 13 in addition to RB1.
13号染色体杂合性缺失（LOH）出现在25% - 30%的乳腺肿瘤中。这可能反映了视网膜母细胞瘤易感基因RB1的失活。然而，最近通过连锁分析在13号染色体上鉴定出了另一个候选肿瘤抑制基因——乳腺癌易感基因BRCA2。为了研究BRCA2在散发性乳腺癌中的作用，使用11个高度多态性微卫星标记对200个乳腺肿瘤进行了13号染色体13q12 - q14区域的LOH检测。在65个肿瘤中发现了LOH，这些肿瘤均同时显示BRCA2和RB1缺失。在用多态性微卫星标记检测的12个乳腺肿瘤细胞系中，7个在13q12 - q14区域显示出连续的纯合区域，提示该细胞系来源的肿瘤存在LOH。一个细胞系在BRCA2区域显示纯合性，而在RB1区域显示杂合性。这是BRCA2除RB1之外是13号染色体上LOH的一个独特靶点的唯一证据。
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