TGFBR1 KD突变在癌症中
中文名称
通路描述
TGF-beta受体1（TGFBR1）激酶结构域（KD）中的突变已在Ferguson-Smith肿瘤（即多自我修复鳞状上皮瘤-MSSE）中发现（Goudie et al. 2011），乳腺癌（Chen et al. 1998），卵巢癌（Chen et al. 2001）和头颈部癌（Chen et al. 2001）。MSSE中报道的KD突变是无义和移码突变，导致TGFBR1翻译提前终止，产生截短的受体，缺乏激酶结构域的大部分，或导致突变转录本的中断性降解。一个剪接位点KD突变c.806-2A>C预计会导致外显子5的跳过和突变受体269-324号氨基酸缺失。剪接位点突变在细胞表面表达，但对TGF-beta刺激无反应（Goudie et al. 2004）。
英文描述
TGFBR1 KD Mutants in Cancer Mutations in the kinase domain (KD) of TGF-beta receptor 1 (TGFBR1) have been found in Ferguson-Smith tumor i.e. multiple self-healing squamous epithelioma - MSSE (Goudie et al. 2011), breast cancer (Chen et al. 1998), ovarian cancer (Chen et al. 2001) and head-and-neck cancer (Chen et al. 2001). KD mutations reported in MSSE are nonsense and frameshift mutations that cause premature termination of TGFBR1 translation, resulting in truncated receptors that lack substantial portions of the kinase domain, or cause nonsense-mediated decay of mutant transcripts. A splice site KD mutation c.806-2A>C is predicted to result in the skipping of exon 5 and the absence of KD amino acid residues 269-324 from the mutant receptor. The splice site mutant is expressed at the cell surface but unresponsive to TGF-beta stimulation (Goudie et al. 2004).
TGFBR1 KD mutations reported in breast, ovarian and head-and-neck cancer are missense mutations, and it appears that these mutant proteins are partially functional but that their catalytic activity or protein stability is decreased (Chen et al. 1998, Chen et al. 2001a and b). These mutants are not shown.
TGFBR1 KD mutations reported in breast, ovarian and head-and-neck cancer are missense mutations, and it appears that these mutant proteins are partially functional but that their catalytic activity or protein stability is decreased (Chen et al. 1998, Chen et al. 2001a and b). These mutants are not shown.
所含基因
4 个基因