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乳腺癌中的线粒基因组变化:识别潜在的风险生物标志物和预后

Carlos Jhovani Pérez-Amado¹, Amellalli Bazan-Cordoba^1,2, Laura Gómez-Romero^3,4

¹Laboratorio de Innovación y Medicina de Precisión Núcleo "A", Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico.

International journal of molecular sciences

|September 13, 2025

概括

线粒体DNA (mtDNA) 变异与乳腺癌风险和生存率有关. 血液和瘤中的特定mtDNA突变和负担可以作为早期检测和预后的有价值的生物标志物.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
生物标志物发现发现

背景情况:

线粒体基因组 (mtDNA) 的改变在癌症发育中起作用.
mtDNA变异可能作为诊断,预后和治疗生物标志物.

研究的目的:

为了识别与乳腺癌风险相关的线粒体DNA (mtDNA) 变异.
调查mtDNA变异与患者生存结果的关联.

主要方法:

来自乳腺癌患者和对照者的结合瘤和外周血液组织的全mtDNA测序.
对mtDNA突变格局,异质体水平和线粒体祖先的分析.
对mtDNA变异的比较分析以及病例和对照之间的负担.

主要成果:

在乳腺癌病例和对照之间观察到mtDNA变异数量,位置和异质体水平的显著差异.
在MT-ND5,tRNA和rRNA基因中发现了更高的突变数量,增加了误解变异,并且在某些情况下发现了mtDNA含量升高.
高血型mtDNA突变负担和五种特定的mtDNA变异与乳腺癌风险增加有关 (OR = 3.83).
低瘤突变负担 (HR = 7.82) 和哈普乐组L (HR = 12.16) 分别与较差的整体和无病生存率有关.

结论:

mtDNA变异显示出作为乳腺癌风险评估的可靠生物标志物的潜力.
mtDNA变化和哈普洛组状态与患者的存活率有关,突出显示了它们的预后价值.
这项研究支持mtDNA变异在改善乳腺癌诊断,预后和潜在的治疗策略方面的实用性.

关键词:

乳腺癌乳腺癌乳腺癌个案控制研究研究.哈普洛组是指一个单个的哈普洛组.不同质体性质的异质体.这是线粒体DNA的DNA.mtDNA生物标志物的生物标志物在mtDNA突变中发生突变.

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