description
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)

external resources
NCBI:1268904
REACTOME:R-HSA-3656535
PUBMED:21358634
PUBMED:23525077
PUBMED:5173258

genes
FKBP1A , TGFB1 , TGFBR1 , TGFBR2 ,