Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Columbia University Medical Center, New York, NY 10032, USA.
J Mammary Gland Biol Neoplasia. 2013 Jun;18(2):143-7. doi: 10.1007/s10911-013-9282-8. Epub 2013 Apr 28.
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.
TBX2 和 TBX3 是 T 盒转录因子基因家族的密切相关成员，在人和小鼠的乳腺组织中均有表达。Ulnar 乳腺综合征（UMS）是一种由 TBX3 突变引起的常染色体显性疾病，突出了 TBX3 在人类乳腺发育中的重要性，而 Tbx2 或 Tbx3 突变小鼠的乳腺发育异常则为实验研究提供了模型。除了在乳腺发育中的作用外，TBX2 和 TBX3 的异常表达与乳腺癌有关。TBX2 在 BRCA1/2 相关乳腺癌中优先扩增，TBX3 过表达与晚期疾病和雌激素受体阳性乳腺肿瘤有关。这些基因在发育和疾病中的 Tbx2 和 Tbx3 的调控及其下游靶标尚未完全阐明。然而，很明显，这两个基因在乳腺发育和乳腺肿瘤发生中均发挥独特的、依赖于上下文的作用。
