X chromosomal abnormalities in basal-like human breast cancer
X chromosomal abnormalities in basal-like human breast cancer
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DOI：
10.1016/j.ccr.2006.01.013
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发表时间：
2006-02-01
期刊：
影响因子：
50.3
通讯作者：
Ganesan, S
中科院分区：
文献类型：
--
作者：
Richardson, AL;Wang, ZGC;Ganesan, S
散发性基底细胞样癌（BLC）是一类独特的人类乳腺癌，与BRCA1相关癌症表型相似。像BRCA1缺陷型肿瘤一样，大多数BLC缺乏正常失活X染色体（Xi）的标记。活性X染色体的复制和Xi的丢失表征了几乎一半的BLC病例。另一些含有双亲但非异染色质化的X染色体或获得X染色体DNA。这些异常并不导致X染色体转录的整体增加，但与一小部分X染色体基因的过表达有关。其他，同样非整倍体，但非BLC很少显示这些X染色体异常。这些结果表明，X染色体异常有助于BLC的发病机制，遗传和散发。
Sporadic basal-like cancers (BLC) are a distinct class of human breast cancers that are phenotypically similar to BRCA1-associated cancers. Like BRCA1-deficient tumors, most BLC lack markers of a normal inactive X chromosome (Xi). Duplication of the active X chromosome and loss of Xi characterized almost half of BLC cases tested. Others contained biparental but nonheterochromatinized X chromosomes or gains of X chromosomal DNA. These abnormalities did not lead to a global increase in X chromosome transcription but were associated with overexpression of a small subset of X chromosomal genes. Other, equally aneuploid, but non-BLC rarely displayed these X chromosome abnormalities. These results suggest that X chromosome abnormalities contribute to the pathogenesis of BLC, both inherited and sporadic.