Reactome: A Curated Pathway Database

TGFBR1 LBD Mutants in Cancer (R-HSA-3656535) [Homo sapiens]


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).

Cross References
Database Identifier
BioModels Database BIOMD0000000499, BIOMD0000000173, BIOMD0000000342
Name Identifier Synonyms
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]