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TGFBR1 LBD Mutants in Cancer

Stable Identifier
R-HSA-3656535
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

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).

Participants
Participant Of
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Cross References