人类散发性乳腺癌中10q23染色体区域及PTEN基因分析
Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma.
作者信息
Feilotter H E, Coulon V, McVeigh J L, Boag A H, Dorion-Bonnet F, Duboué B, Latham W C, Eng C, Mulligan L M, Longy M
机构信息
Department of Pathology, Queen's University, Kingston, Ontario, Canada.
出版信息
Br J Cancer. 1999 Feb;79(5-6):718-23. doi: 10.1038/sj.bjc.6690115.
We examined a panel of sporadic breast carcinomas for loss of heterozygosity (LOH) in a 10-cM interval on chromosome 10 known to encompass the PTEN gene. We detected allele loss in 27 of 70 breast tumour DNAs. Fifteen of these showed loss limited to a subregion of the area studied. The most commonly deleted region was flanked by D10S215 and D10S541 and encompasses the PTEN locus. We used a combination of denaturing gradient gel electrophoresis and single-strand conformation polymorphism analyses to investigate the presence of PTEN mutations in tumours with LOH in this region. We did not detect mutations of PTEN in any of these tumours. Our data show that, in sporadic breast carcinoma, loss of heterozygosity of the PTEN locus is frequent, but mutation of PTEN is not. These results are consistent with loss of another unidentified tumour suppressor in this region in sporadic breast carcinoma.
我们检测了一组散发型乳腺癌，以确定在已知包含PTEN基因的10号染色体上一个10厘摩区间内的杂合性缺失（LOH）情况。我们在70份乳腺肿瘤DNA中的27份检测到了等位基因缺失。其中15份显示缺失局限于所研究区域的一个子区域。最常缺失的区域位于D10S215和D10S541两侧，包含PTEN基因座。我们联合使用变性梯度凝胶电泳和单链构象多态性分析，来研究该区域存在LOH的肿瘤中PTEN突变情况。我们在这些肿瘤中均未检测到PTEN突变。我们的数据表明，在散发型乳腺癌中，PTEN基因座的杂合性缺失很常见，但PTEN突变并不常见。这些结果与散发型乳腺癌中该区域另一个未明确的肿瘤抑制基因缺失一致。
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