TGFBR1 LBD突变在癌症中
中文名称
通路描述
TGF-beta受体1（TGFBR1）配体结合结构域（LBD）中的突变已在Ferguson-Smith肿瘤（多自我修复鳞状上皮瘤-MSSE）中被报道，这是一种常染色体显性皮肤癌疾病（Ferguson-Smith et al. 1934, Ferguson-Smith et al. 1971），肿瘤经常显示野生型TGFBR1等位基因的丢失杂合性（Goudie et al. 2011）。TGFBR1 LBD的体细胞突变已在食管癌中报道（Dulak et al. 2013）。
英文描述
TGFBR1 LBD Mutants in Cancer Mutations in the ligand-binding domain (LBD) of TGF-beta receptor 1 (TGFBR1) have been reported as germline mutations in Ferguson-Smith tumor (multiple self-healing squamous epithelioma - MSSE), an autosomal-dominant skin cancer condition (Ferguson-Smith et al. 1934, Ferguson-Smith et al. 1971), with tumors frequently showing loss of heterozygosity of the wild-type TGFBR1 allele (Goudie et al. 2011). Somatic mutations in the LBD of TGFBR1 have been reported in esophageal carcinoma (Dulak et al. 2013).
所含基因
3 个基因