Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Cancer
0.600 Biomarker disease BEFREE EGFR, SMAD7, and TGFBR2 are associated with CRC risk in patients with Lynch syndrome. 30275229 2018
Hereditary Nonpolyposis Colorectal Cancer
0.600 GeneticVariation disease BEFREE Additionally, we observed differences in MSH3 and TGFBR2 mutational frequency between Lynch syndrome and sporadic MSI CRC regarding tumour location. 26247575 2015
Hereditary Nonpolyposis Colorectal Cancer
0.600 GeneticVariation disease BEFREE The first characterized nonepithelial tumors in HNPCC seem to carry a limited panel of RER, including a framesift at the (A)(10) tract of TGFBR2. 15350299 2004
Hereditary Nonpolyposis Colorectal Cancer
0.600 GeneticVariation disease BEFREE MSI-high (allelic shifts in 40% or more loci or alteration of the TGFbetaRII gene) was present in 4 of 126 (3.2%) biliary tract cancers without hereditary nonpolyposis colorectal cancer. 12374683 2002
Hereditary Nonpolyposis Colorectal Cancer
0.600 GeneticVariation disease BEFREE We exploited a fortuitous experiment of nature to directly test this hypothesis: the TGF-beta type II receptor gene is inactivated by mutation in nearly all colorectal carcinomas having microsatellite instability, as seen in hereditary nonpolyposis colorectal cancer (HNPCC) and in sporadic medullary colorectal cancers. 11159190 2001
Hereditary Nonpolyposis Colorectal Cancer
0.600 GeneticVariation disease BEFREE Mutational analysis of the transforming growth factor beta receptor type II gene in hereditary nonpolyposis colorectal cancer and early-onset colorectal cancer patients. 10690536 2000
Hereditary Nonpolyposis Colorectal Cancer
0.600 PosttranslationalModification disease BEFREE The TGFbeta RII gene has been found mutated at the germline level in a small number of HNPCC patients. 10772416 1999
Hereditary Nonpolyposis Colorectal Cancer
0.600 GeneticVariation disease BEFREE Given that COX-2 is induced by transforming growth factor (TGF)-beta and that TGF-beta type II receptor (RII) mutations are found in HNPCCs, we determined the relationship between RII status and COX-2 expression. 10419916 1999
Hereditary Nonpolyposis Colorectal Cancer
0.600 Biomarker disease CTD_human HNPCC associated with germline mutation in the TGF-beta type II receptor gene. 9590282 1998
Hereditary Nonpolyposis Colorectal Cancer
0.600 AlteredExpression disease BEFREE These results indicate that reconstitution of TGF-beta autocrine activity by reexpression of RII can reverse malignancy in RER colon cancers, thus verifying that the malignancy of hereditary nonpolyposis colorectal cancer can be directly associated with the loss of RII expression. 7665626 1995
Hereditary Nonpolyposis Colorectal Cancer
0.600 Biomarker disease BEFREE These data suggest that the TGF-beta type II receptor gene is a major target of genomic instability in HNPCC tumorigenesis. 7488133 1995
Hereditary Nonpolyposis Colorectal Cancer
0.600 GeneticVariation disease ORPHANET