线粒体DNA突变与乳腺癌相关性的研究进展  

Somatic mitochondral DNA mutations in human breast cancer

作　　者：徐会[1] 周福祥[1] 

机构地区：[1]武汉大学中南医院放化疗科湖北省肿瘤生物学行为重点实验室,武汉430071

出　　处：《临床肿瘤学杂志》2013年第10期943-946,共4页Chinese Clinical Oncology

基　　金：国家自然科学基金资助项目(81172129)

摘　　要：乳腺癌体细胞线粒体DNA(mtDNA)编码区和调控区会发生多种突变,大量研究提示mtDNA突变积累可能是引起线粒体功能持久缺陷的关键因子,进而导致乳腺癌的发生与进展。本综述归纳了乳腺癌mtDNA点突变、缺失及其拷贝数改变在乳腺癌发生发展、病理生理过程中的作用,讨论了"线粒体———细胞核逆行响应"信号通路及mtDNA作为新的肿瘤标志物和治疗靶标的潜在临床价值。Numerous somatic mutations in both the coding and control regions of mitochondrial DNA（mtDNA） have been extensively examined in human breast cancer in the past decades,underscoring that accumulation of mitochondrial defects and consequently contributing to cancer initiation and progression.This review outlines a wide variety of somatic mtDNA mutations identified in breast cancer and highlights recent advances in understanding the causal roles of mtDNA variations in neoplastic transformation and tumor progression.In addition,it briefly illustrates how mtDNA alterations active mitochondria-to-nucleus retrograde signaling so as to modulate and promote malignant phenotypes in cancer cells.The present state of our knowledge regarding how mutational changes in the mitochondrial genome could be used as a diagnostic biomarker for early detection of breast cancer and as a potential target in the development of new therapeutic approaches is also discussed.

关 键 词：线粒体DNA 乳腺癌 点突变 缺失 拷贝数 

分 类 号：R737.9[医药卫生—肿瘤]