TGFBR2 MSI嵌合突变
中文名称
通路描述
TGF-beta受体II（TGFBR2）基因编码区中的短腺嘌呤重复序列在微卫星不稳定性（MSI）结直肠癌中被频繁靶向。TGFBR2 cDNA中1-2 bp的腺嘌呤缺失引入提前终止密码子，导致大部分突变转录本通过无义介导的降解降解，或产生无法在细胞表面呈现的截短TGFBR2。携带TGFBR2 MSI嵌合突变的细胞对TGF-beta（TGFB1）介导的生长抑制具有耐药性。
英文描述
TGFBR2 MSI Frameshift Mutants in Cancer The short adenine repeat in the coding sequence of TGF-beta receptor II (TGFBR2) gene is frequently targeted by loss-of-function frameshift mutations in colon cancers with microsatellite instability (MSI). The 1- or 2-bp deletions in the adenine stretch of TGFBR2 cDNA introduce a premature stop codon that leads to degradation of the majority of mutant transcripts through nonsense-mediated decay or to production of a truncated TGFBR2 that cannot be presented on the cell surface. Cells that harbor TGFBR2 MSI frameshift mutations are resistant to TGF-beta (TGFB1)-mediated growth inhibition.
所含基因
1 个基因