Proximal 6q, a region showing allele loss in primary breast cancer.
Proximal 6q, a region showing allele loss in primary breast cancer.
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近端6Q，一个显示原发性乳腺癌等位基因损失的区域。
DOI：
10.1038/bjc.1995.58
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发表时间：
1995-02
影响因子：
8.8
通讯作者：
Santibanez-Koref, M
中科院分区：
文献类型：
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作者：
Orphanos, V;McGown, G;Hey, Y;Boyle, J M;Santibanez-Koref, M
为了确定乳腺癌中染色体6q的缺失区域，我们对42例配对的血液/肿瘤样本进行了18个(CA)n个微卫星的等位基因失衡(AI)检测。样本群体中各标记的杂合度频率在31%~92%之间，平均为68%。染色体臂的两个区域显示的AI值大于用跨越6q21-q25.2的五个标记观察到的信息性病例的背景范围10-22%(平均17%)。首先，在6q13的D6S313(AI=10%)和6q16.3-21的D6S283(AI=17%)两侧的7个标记中，AI值平均为35%。第二个区域在6q25.2-q27显示AI略有增加，并包括D6S193，以前被证明与卵巢癌相关的肿瘤抑制基因很近。由于乳腺癌中6q的AI以前被证明主要是由于杂合性丢失，我们的结果表明在6q上至少存在两个与乳腺癌有关的肿瘤抑制基因。近端区域以前没有在乳腺癌中被发现，并且与远端区域相比，肿瘤的发生率更高。
To define regions of deletion of chromosome 6q in breast cancer, we scored 18 (CA)n microsatellites for allelic imbalance (AI) in 42 paired blood/tumour samples. Heterozygosity frequencies of the markers in the sample population ranged from 31% to 92% (mean 68%). Two regions of the chromosome arm showed AI values greater than the background range of 10-22% (mean 17%) of informative cases that was observed with five markers spanning 6q21-q25.2. Firstly, seven markers gave AI values that averaged 35% in a region flanked by D6S313 (AI = 10%) at 6q13 and D6S283 (AI = 17%) at 6q16.3-21. The second region showed marginally increased AI at 6q25.2-q27 and included D6S193, previously shown to be close to a tumour-suppressor gene involved in ovarian carcinoma. Since AI of 6q in breast cancer was shown previously to be due predominantly to loss of heterozygosity, our results suggest the presence of at least two tumour-suppressor genes on 6q that are involved in breast cancer. The proximal region has not been recognised in breast cancer before and is involved in a higher frequency of tumours than the distal region.