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首页> 外文期刊>The Journal of molecular diagnostics: JMD >Absence of the caveolin-1 P132L mutation in cancers of the breast and other organs.
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Absence of the caveolin-1 P132L mutation in cancers of the breast and other organs.

机译:乳腺癌和其他器官的癌症中不存在caveolin-1 P132L突变。

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摘要

Caveolin-1 belongs to a family of scaffolding proteins, and the P132L point mutation of this gene has been found in up to 16% of all examined breast cancers. Subsequent studies have revealed that the P132L mutation exerts a dominant negative effect through misfolding during caveolin-1 oligomerization. However, this mutation has not been validated in other series of breast cancer samples. Contradictory to the suggested tumor suppressor function, overexpression of caveolin-1 is common in various cancer types. To clarify these inconsistent results, we examined the caveolin-1 mutation in a large series of breast cancer specimens. We first used a standard direct sequencing method and found that none of the 99 breast cancers tested had this mutation. Then we developed a sensitive method for a paraffin section that could detect the mutant allele at a rate of as little as 0.1% among wild-type allele copies. Even when using this sensitive method, none of the 80 estrogen receptor-positive breast tumors had the P132L mutation. Furthermore, 270 cancers in various organs were examined, and no caveolin-1 mutations were detected. These results raise doubt about the presence of the caveolin-1 P132L mutation in breast cancer and other cancer types, and thus further studies are warranted.
机译:Caveolin-1属于支架蛋白家族,在多达16%的所有检查过的乳腺癌中都发现了该基因的P132L点突变。后续研究表明,P132L突变在Caveolin-1寡聚过程中通过错误折叠发挥了主要的负面作用。但是,此突变尚未在其他系列的乳腺癌样本中得到验证。与建议的肿瘤抑制功能相反,caveolin-1的过表达在各种癌症中都很常见。为了阐明这些不一致的结果,我们检查了一系列乳腺癌标本中的小窝蛋白1突变。我们首先使用标准的直接测序方法,发现所测试的99种乳腺癌均无此突变。然后,我们开发了一种灵敏的石蜡切片方法,该方法可以检测野生型等位基因拷贝中突变等位基因的比率仅为0.1%。即使使用这种敏感的方法,80种雌激素受体阳性的乳腺肿瘤都没有P132L突变。此外,检查了各器官中的270种癌症,未检测到小窝蛋白1突变。这些结果使人们怀疑在乳腺癌和其他癌症类型中是否存在caveolin-1 P132L突变,因此有必要进行进一步的研究。

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