Genome wide screening of CAG trinucleotide repeat lengths in breast cancer.
Genome wide screening of CAG trinucleotide repeat lengths in breast cancer.
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乳腺癌中 CAG 三核苷酸重复长度的全基因组筛查。
DOI：
10.1155/2006/951857
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发表时间：
2006
期刊：
影响因子：
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通讯作者：
Ozcelik,Hilmi
中科院分区：
文献类型：
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作者：
Jarjanazi,Hamdi;Li,Hong;Andrulis,IreneL;Ozcelik,Hilmi
三核苷酸重复序列广泛存在于人类基因组中。 CAG 重复序列的扩增已被广泛研究，并被证明是 40 多种神经肌肉和神经退行性疾病的致病机制。在本研究中，我们使用重复扩增检测 (RED) 方法对 212 例乳腺癌病例和 196 名健康对照人群的非肿瘤组织中的 CAG 重复扩增进行了全基因组筛查。病例中 CAG 重复长度的分布与对照组没有显着差异。然而，在 2.4% (n= 5) 的乳腺癌病例中检测到显着扩大的 CAG 重复序列，而在任何健康人群对照中均未检测到类似大小的重复序列。尽管这一趋势仅显示出临界显着性 (p= 0.06)，但这一发现表明 CAG 重复扩增可能与乳腺癌易感性有关。这些重复可能会影响癌症易感基因的功能，其机制与神经退行性和神经肌肉疾病相似。
Trinucleotide repeat sequences are widely present in the human genome. The expansion of CAG repeats have been studied very extensively, and shown to be the causative mechanism of more than 40 neuromuscular and neurodegenerative diseases. In the present study, we performed a genome wide screening of CAG repeat expansions in non‐neoplastic tissues of 212 breast cancer cases and 196 healthy population controls using the Repeat Expansion Detection (RED) method. Distribution of CAG repeat lengths in cases was not significantly different from controls. However, dramatically expanded CAG repeats were detected in 2.4% (n= 5) of breast cancer cases where no repeats of similar size were detected in any of the healthy population controls. Although this trend shows only borderline significance (p= 0.06), this finding suggests a potential involvement of CAG repeat expansion in breast cancer susceptibility. These repeats may potentially affect the function of cancer predisposition genes, with a similar mechanism as in neurodegenerative and neuromuscular disorders.