Fahey Catherine C, Rathmell W Kimryn
Curriculum in Genetics and Molecular Biology; University of North Carolina at Chapel Hill ; Chapel Hill, NC USA.
Lineberger Comprehensive Cancer Center; University of North Carolina at Chapel Hill ; Chapel Hill, NC USA.
Mol Cell Oncol. 2015 Jan 20;2(2):e979686. doi: 10.4161/23723556.2014.979686. eCollection 2015 Apr-Jun.
The Cancer Genome Atlas undertook a comprehensive genetic analysis of chromophobe renal cell carcinoma, the first of the rare tumor types to be analyzed. This analysis identified the putative region of origin as the distal nephron. Alterations in mitochondrial function, mtDNA mutations, and recurrent structural rearrangements within the TERT promoter region were also identified.
癌症基因组图谱(The Cancer Genome Atlas)对嫌色性肾细胞癌进行了全面的基因分析,这是对罕见肿瘤类型进行分析的首例。该分析确定假定的起源区域为远端肾单位。还发现了线粒体功能改变、线粒体DNA(mtDNA)突变以及端粒酶逆转录酶(TERT)启动子区域内的复发性结构重排。