Facile detection of mitochondrial DNA mutations in tumors and bodily fluids
Facile detection of mitochondrial DNA mutations in tumors and bodily fluids
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DOI：
10.1126/science.287.5460.2017
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发表时间：
2000-03-17
期刊：
影响因子：
56.9
通讯作者：
Sidransky, D
中科院分区：
文献类型：
--
作者：
Fliss, MS;Usadel, H;Sidransky, D
对人类膀胱、头颈部和肺原发肿瘤的检查显示，线粒体DNA(MtDNA)突变频率很高。这些体细胞突变中的大多数本质上是同质的，表明突变的mtDNA在肿瘤细胞中占主导地位。突变的线粒体DNA在每种类型的癌症的配对体液中都很容易检测到，其含量是突变的核P53 DNA的19到220倍。线粒体突变凭借其克隆性和高拷贝数，可能为癌症的非侵入性检测提供一个强大的分子标记。
Examination of human bladder, head and neck, and lung primary tumors revealed a high frequency of mitochondrial DNA (mtDNA) mutations. The majority of these somatic mutations were homoplasmic in nature, indicating that the mutant mtDNA became dominant in tumor cells. The mutated mtDNA was readily detectable in paired bodily fluids from each type of cancer and was 19 to 220 times as abundant as mutated nuclear p53 DNA. By virtue of their clonal nature and high copy number, mitochondrial mutations may provide a powerful molecular marker for noninvasive detection of cancer.