Loss of Function of TGFBR1 in Cancer

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. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet. 2011 Feb 27;43(4):365–9. doi: 10.1038/ng.780. PMID: 21358634.; Zeng Q, Phukan S, Xu Y, Sadim M, Rosman DS, Pennison M, Liao J, Yang GY, Huang CC, Valle L, Di Cristofano A, de la Chapelle A, Pasche B. Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development. Cancer Res. 2009 Jan 15;69(2):678–86. PMID: 19147584; PMCID: PMC2668823.; Chen T, Yan W, Wells RG, Rimm DL, McNiff J, Leffell D, Reiss M. Novel inactivating mutations of transforming growth factor-beta type I receptor gene in head-and-neck cancer metastases. Int J Cancer. 2001 Sep 01;93(5):653–61. doi: 10.1002/ijc.1381. PMID: 11477574.; Chen T, Triplett J, Dehner B, Hurst B, Colligan B, Pemberton J, Graff JR, Carter JH. Transforming growth factor-beta receptor type I gene is frequently mutated in ovarian carcinomas. Cancer Res. 2001 Jun 15;61(12):4679–82. PMID: 11406536.; Schiemann WP, Pfeifer WM, Levi E, Kadin ME, Lodish HF. A Deletion in the Gene for Transforming Growth Factor ß Type I Receptor Abolishes Growth Regulation by Transforming Growth Factor ß in a Cutaneous T-Cell Lymphoma. 1999 Oct 15;94(8):2854–61. doi: 10.1182/blood.v94.8.2854.420k07_2854_2861.; Goggins M, Shekher M, Turnacioglu K, Yeo CJ, Hruban RH, Kern SE. Genetic alterations of the transforming growth factor beta receptor genes in pancreatic and biliary adenocarcinomas. Cancer Res. 1998 Dec 01;58(23):5329–32. PMID: 9850059.; Chen T, Carter D, Garrigue-Antar L, Reiss M. Transforming growth factor beta type I receptor kinase mutant associated with metastatic breast cancer. Cancer Res. 1998 Nov 01;58(21):4805–10. PMID: 9809982.

Metabolites



Enzyme

EC Number name full name note
2.7.11.30 receptor protein serine/threonine kinase ATP:[receptor-protein] phosphotransferase
5.2.1.8 peptidylprolyl isomerase Peptidylproline cis-trans-isomerase


Proteins

Protein ID name full name