TGFBR1 LBD Mutants in Cancer

Stable Identifier
R-HSA-3656535
Type
Pathway
Species
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
5173258 Multiple self-healing squamous epithelioma

Ferguson-Smith, MA, Wallace, DC, James, ZH, Renwick, JH

Birth Defects Orig. Artic. Ser. 1971
21358634 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Goudie, DR, D'Alessandro, M, Merriman, B, Lee, H, Szeverényi, I, Avery, S, O'Connor, BD, Nelson, SF, Coats, SE, Stewart, A, Christie, L, Pichert, G, Friedel, J, Hayes, I, Burrows, N, Whittaker, S, Gerdes, AM, Broesby-Olsen, S, Ferguson-Smith, MA, Verma, C, Lunny, DP, Reversade, B, Lane, EB

Nat. Genet. 2011
23525077 Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity

Dulak, AM, Stojanov, P, Peng, S, Lawrence, MS, Fox, C, Stewart, C, Bandla, S, Imamura, Y, Schumacher, SE, Shefler, E, McKenna, A, Carter, SL, Cibulskis, K, Sivachenko, A, Saksena, G, Voet, D, Ramos, AH, Auclair, D, Thompson, K, Sougnez, C, Onofrio, RC, Guiducci, C, Beroukhim, R, Zhou, Z, Lin, L, Lin, J, Reddy, R, Chang, A, Landrenau, R, Pennathur, A, Ogino, S, Luketich, JD, Golub, TR, Gabriel, SB, Lander, ES, Beer, DG, Godfrey, TE, Getz, G, Bass, AJ

Nat. Genet. 2013
A case of multiple primary squamous-celled carcinomata in a young man, with spontaneous healing.

Ferguson-Smith, J

Br. J. Dermatol. 1934
Participants
Participant Of
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
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