description
TGF-beta receptor 1 (TGFBR1) loss-of-function is a less frequent mechanism for inactivation of TGF-beta signaling in cancer compared to SMAD4 and TGFBR2 inactivation. Genomic deletion of TGFBR1 locus has been reported in pancreatic cancer (Goggins et al. 1998), biliary duct cancer (Goggins et al. 1998) and lymphoma (Schiemann et al. 1999), while loss-of-function mutations have been reported in breast (Chen et al. 1998) and ovarian cancer (Chen et al. 2001), metastatic head-and-neck cancer (Chen et al. 2001), and in Ferguson-Smith tumors (multiple self-healing squamous epithelioma - MSSE) (Goudie et al. 2011). Loss-of-function mutations mainly affect the ligand-binding extracellular domain of TGFBR1 and the kinase domain of TGFBR1 (Goudie et al. 2011). In the mouse model of colorectal cancer, Tgfbr1 haploinsufficiency cooperates with Apc haploinsufficiency in the development of intestinal tumors (Zeng et al. 2009)

external resources
NCBI:1268903
REACTOME:R-HSA-3656534
PUBMED:11406536
PUBMED:11477574
PUBMED:19147584
PUBMED:21358634
PUBMED:9850059
PUBMED:9809982
PUBMED:10515889

genes
FKBP1A , SMAD2 , SMAD3 , TGFB1 , TGFBR1 , TGFBR2 , ZFYVE9 ,