The T-box transcription factors TBX2 and TBX3 in mammary gland development and breast cancer.
The T-box transcription factors TBX2 and TBX3 in mammary gland development and breast cancer.
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DOI：
10.1007/s10911-013-9282-8
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发表时间：
2013-06
影响因子：
2.5
通讯作者：
Papaioannou, Virginia E.
中科院分区：
文献类型：
--
作者：
Douglas, Nataki C.;Papaioannou, Virginia E.
TBX 2和TBX 3是转录因子基因的T-box家族的密切相关成员，在人类和小鼠的乳腺组织中表达。尺乳综合征（UMS）是由TBX 3突变引起的常染色体显性遗传疾病，强调了TBX 3在人类乳房发育中的重要性，而Tbx 2或Tbx 3突变小鼠中的异常乳腺发育提供了实验研究的模型。除了在乳腺发育中的作用外，TBX 2和TBX 3的异常表达还与乳腺癌有关。TBX 2在BRCA 1/2相关乳腺癌中优先扩增，TBX 3过表达与晚期疾病和雌激素受体阳性乳腺肿瘤相关。Tbx 2和Tbx 3的调控以及这些基因在发育和疾病中的下游靶点尚未完全阐明。然而，很明显，这两个基因在乳腺发育和乳腺肿瘤发生中起着独特的、依赖于环境的作用。
TBX2 and TBX3, closely related members of the T-box family of transcription factor genes, are expressed in mammary tissue in both humans and mice. Ulnar mammary syndrome (UMS), an autosomal dominant disorder caused by mutations in TBX3, underscores the importance of TBX3 in human breast development, while abnormal mammary gland development in Tbx2 or Tbx3 mutant mice provides models for experimental investigation. In addition to their roles in mammary development, aberrant expression of TBX2 and TBX3 is associated with breast cancer. TBX2 is preferentially amplified in BRCA1/2-associated breast cancers and TBX3 overexpression has been associated with advanced stage disease and estrogen-receptor-positive breast tumors. The regulation of Tbx2 and Tbx3 and the downstream targets of these genes in development and disease are not as yet fully elucidated. However, it is clear that the two genes play unique, context-dependent roles both in mammary gland development and in mammary tumorigenesis.
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