SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE The deleted in pancreatic cancer locus 4 (DPC4)/SMAD4 tumor suppressor gene is frequently inactivated in pancreatic (approximately 55%) and colorectal cancers (approximately 30%). 19276868 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Other members of the SMAD family are excellent candidates for JPS, especially SMAD2 (which, like SMAD4, is mutated somatically in colorectal cancers), SMAD3 (which causes colorectal cancer when "knocked out" in mice), SMAD5, and SMAD1. 10446110 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Smad4 plays a pivotal role in the TGF-beta signaling pathway and has been identified as a tumor suppressor, being mutated or deleted in approximately 50% of pancreatic carcinomas and 15% of colorectal cancers. 11553622 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Reduced gene expression of CXXC1, SMAD4 and MBD2 correlates with 18q21 loss in CRC cell lines (P = 0.04, 0.02 and 0.02, respectively). 19329758 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE MiR-190 and DPC4 expression were measured in five different CRC cell lines by quantitative real-time polymerase chain reaction (qRT-PCR) and Western blot. 29970662 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Two missense mutations in the C-terminal domain of Smad4, D351H (Asp351-->His) and D537Y (Asp537-->Tyr), have been described recently in the human colorectal cancer cell lines CACO-2 and SW948 respectively [Woodford-Richens, Rowan, Gorman, Halford, Bicknell, Wasan, Roylance, Bodmer and Tomlinson (2001) Proc.Natl.Acad.Sci.U.S.A. 98, 9719-9723]. 14715079 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE SMAD4 as a prognostic marker in colorectal cancer. 15814640 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Residing in this region are the Madh2 and Madh4 genes, which have both been implicated in human colorectal cancer. 12584607 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE In patients with colorectal cancer (CRC), mutations or reduced levels of Smad4 have been correlated with reduced survival. 19909744 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Somatic inactivation of SMAD4 occurs in pancreatic and colorectal cancers and is reflected by loss of SMAD4 immunohistochemistry. 20682711 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Expression of ANXA10 (P = .038), SMAD family member 4 (P = .028), and deleted in colorectal carcinoma (P = .004) was less common in adenocarcinoma of the distal stomach than in adenocarcinoma of the gastric cardia. 22901464 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE ITF-2B, which is up-regulated during early colorectal carcinogenesis because of loss of adenomatous polyposis coli, is a target for LOH on chromosome 18q, along with deleted in colorectal carcinoma and Smad4. 19394332 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Our study demonstrated a functional role of the TRIM47-SMAD4-CCL15 axis in CRC progression and suggested a potential target for CRC therapy. 30979374 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE We observed that loss of SMAD4 and PPM1A was seen in 37.8% and 7.3% of CRCs, respectively. 28601657 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Our study demonstrated high frequency of <i>Smad4</i> alterations with low expression of Smad4 protein identifying a subgroup of aggressive colorectal cancer to be an independent marker for poor prognosis. 31053577 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE To investigate the potential role of DPC4/SMAD4 gene in colorectal cancers, we examined 73 tumors of clinical stages II or III from Japanese patients, for LOH at 18q21 and also for subtle mutations anywhere within the coding region of DPC4/SMAD4. 10479724 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancer. 28545046 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE BMP signalling inhibits Wnt signalling in CRC only when p53 and SMAD4 are unaffected. 25393365 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE To assess the role of Smad4 in E-cadherin regulation in colorectal carcinogenesis further, the present study has analysed Smad4 and E-cadherin RNA and protein expression in colorectal carcinoma cell lines and in 51 late-stage colorectal carcinomas. 15095268 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE SMAD4 expression was absent in 20 of 53 (38%) unselected colorectal carcinomas, and reduced in another 15 (28%) cases. 12077092 2002
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Four hundred and seventy-nine paraffin-embedded specimens of CRC were examined for nuclear SMAD4 expression using immunohistochemistry. 21964812 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE The MUTYH mutational signature reflecting persistent 8-oxoG:A mismatches occurs frequently in the APC, KRAS, PIK3CA, FAT4, TP53, FAT1, AMER1, KDM6A, SMAD4 and SMAD2 genes that are associated with CRC. 28551381 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Following the definition of SMAD4 deletion as a negative predictive marker for chemotherapy benefit in patients with CRC, we aimed to evaluate the clinical relevance of the deletion of other SMAD genes clustered in this region: SMAD2 and SMAD7 in 264 CRC biopsies from a previous clinical study. 12584741 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE SMAD4 is a gastrointestinal malignancy-specific tumor suppressor gene found mutated in one third of colorectal cancer specimens and half of pancreatic tumors. 24625091 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE DPC4 protein may regulate proliferation of colorectal carcinoma cells by inhibiting cell growth and inducing cell apoptosis. 15637742 2005