TGFBR2激酶结构域突变
中文名称
通路描述
TGF-beta受体II（TGFBR2）激酶结构域（KD）中的错义突变在约20%的微卫星稳定（MSS）结直肠癌中被发现，使受影响的肿瘤对TGF-beta（TGFB1）介导的生长抑制具有耐药性（Grady et al. 1999）。虽然MSS结直肠癌中TGFBR2的两个等位基因均受失活突变影响（Grady et al. 1999），但一项针对MSS食管癌的研究表明，TGFBR2 KD突变可能以显性负效应发挥作用（Tanaka et al. 2000）。TGFBR2的KD突变在微卫星不稳定（MSI）结直肠癌中很少报道（Parsons et al. 1995, Takenoshita et al. 1997）。
英文描述
TGFBR2 Kinase Domain Mutants in Cancer Missense mutations in the kinase domain (KD) of TGF-beta receptor II (TGFBR2) are found in ~20% of microsatellite stable (MSS) colon cancers and make affected tumors resistant to TGF-beta (TGFB1)-mediated growth inhibition (Grady et al. 1999). While both alleles of TGFBR2 are affected by inactivating mutations in MSS colorectal cancer (Grady et al. 1999), a study of MSS esophageal carcinoma indicates that TGFBR2 KD mutations may function in a dominant-negative way (Tanaka et al. 2000). KD mutations in TGFBR2 are rarely reported in microsatellite instable (MSI) colorectal cancer (Parsons et al. 1995, Takenoshita et al. 1997).
所含基因
2 个基因