Genome remodelling in a basal-like breast cancer metastasis and xenograft.
Genome remodelling in a basal-like breast cancer metastasis and xenograft.
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大规模平行的DNA测序技术提供了前所未有的能力，可以筛选整个基因组，以实现与肿瘤进展相关的遗传变化。在这里，我们描述了来自非裔美国人基底乳腺癌患者的四个DNA样品的基因组分析：周围血液，原发性肿瘤，脑转移和源自原发性肿瘤的异种移植物。转移包含两个从头突变，原发性肿瘤中不存在一个大的缺失，并显着富集了20种共同的突变。异种移植物保留了所有原发性肿瘤突变，并显示了与转移相似的突变富集模式（20个基因中的16个）。在所有三个肿瘤样品中都存在两个重叠的大缺失，包括CTNNA1。与原发性肿瘤相比，转移和异种移植物中的差异突变频率和结构变异模式表明，次要肿瘤可能来自原发性肿瘤的少数细胞。
Massively parallel DNA sequencing technologies provide an unprecedented ability to screen entire genomes for genetic changes associated with tumor progression. Here we describe the genomic analyses of four DNA samples from an African-American patient with basal-like breast cancer: peripheral blood, the primary tumor, a brain metastasis, and a xenograft derived from the primary tumor. The metastasis contained two de novo mutations and a large deletion not present in the primary tumor, and was significantly enriched for 20 shared mutations. The xenograft retained all primary tumor mutations, and displayed a mutation enrichment pattern that paralleled the metastasis (16 of 20 genes). Two overlapping large deletions, encompassing CTNNA1, were present in all three tumor samples. The differential mutation frequencies and structural variation patterns in metastasis and xenograft compared to the primary tumor suggest that secondary tumors may arise from a minority of cells within the primary.
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影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1073/pnas.0401064101
发表时间：
2004-04-06
影响因子：
11.1
作者：
Kuperwasser, C;Chavarria, T;Weinberg, RA
通讯作者：
Weinberg, RA
影响因子：
6
作者：
Plumb, Claire L.;Adamcic, Una;Coomber, Brenda L.
通讯作者：
Coomber, Brenda L.
影响因子：
56.9
作者：
Hong, JH;Hwang, ES;Yaffe, MB
通讯作者：
Yaffe, MB
影响因子：
7
作者：
Li, Heng;Ruan, Jue;Durbin, Richard
通讯作者：
Durbin, Richard