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).
|BioModels Database||BIOMD0000000499, BIOMD0000000173, BIOMD0000000342|
|cancer||162||[malignant tumor, malignant neoplasm, primary cancer]|
|21358634||Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1||Nat. Genet.||2011|
|23525077||Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity||Nat. Genet.||2013|
|5173258||Multiple self-healing squamous epithelioma||Birth Defects Orig. Artic. Ser.||1971|
|A case of multiple primary squamous-celled carcinomata in a young man, with spontaneous healing.||Br. J. Dermatol.||1934|