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 Biomarker disease BEFREE SMAD4 is a polypeptide with tumor suppressor function being investigated as a prognostic biomarker in Union Internationale Contre le Cancer stages II and III in previous studies, but its role as a prognostic marker in stage IV colorectal cancer (CRC) is still undefined. 21609932 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Although Smad4 is regarded as a signaling mediator of the TGFβ signaling pathway, its role as a major suppressor of colorectal cancer progression and the molecular events underlying this phenomenon remain elusive. 21245094 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Therefore, BMP7-Smad4-Id2 signaling may play a significant role in the development of colorectal carcinoma. 21523323 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Obtained results, though preliminary, also indicate that SMAD4 gene promoter haplotype -462T(14)/-4T(10) may represent a genetic marker of potential relevance for pancreatic and colorectal cancer. 21036691 2011
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 CTD_human We examined the paired tumor and normal tissue specimens of 86 CRC patients for the occurrence of aberrations in MCR region of SMAD4 and exon 1 of KRAS by PCR-SSCP and/or PCR-Direct sequencing. 20565773 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Importantly, our analyses revealed that, while known CRC driver genes APC and SMAD4 were disrupted in both human colorectal tumors and tumors from ApcMin/+ mice, the questionable MCC gene was disrupted in human tumors but appeared to be intact in mouse tumors. 20707908 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Loss of SMAD4 expression is a common feature of early-onset colorectal tumours as it is in colorectal cancers diagnosed in other age-groups. 19183329 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE SMAD4--molecular gladiator of the TGF-beta signaling is trampled upon by mutational insufficiency in colorectal carcinoma of Kashmiri population: an analysis with relation to KRAS proto-oncogene. 20565773 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Like SMAD4 (also in 18q), the decreased expression of ATP5A1 appears to be a marker of unfavorable clinical outcome in CRCs. 20709793 2010
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 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 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 To address whether Smad4 was required for enhancing metastatic potentials by BMP-4 in colorectal cancer, we generated BMP-4 overexpressing clones from Smad4-deficient SW480 cells. 19321257 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE A transducer of TGF-beta signaling known as Mothers against decapentaplegic homologue 4 (Smad4) is a known tumor suppressor found on chromosome 18q21.1 and is typically inactivated by deletion or mutation in pancreatic and colorectal cancers. 18213629 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Loss of Smad4 protein expression and 18qLOH as molecular markers indicating lymph node metastasis in colorectal cancer--a study matched for tumor depth and pathology. 17786972 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Alterations in transforming growth factor-beta signaling, due to a decrease in Smad2 and especially Smad4 expression, has primarily been reported in pancreatic and colorectal cancers, although loss of the chromosomal region 18q21.1, containing the loci of Smad2 and Smad4, is among the most frequent molecular alterations in cervical cancer. 18425078 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE BMPR2 expression is impaired more frequently in MSI CRCs than MSS (85% vs 29%; P < .0001) and shows a mutually exclusive pattern of impaired expression compared with SMAD4. 18471510 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Statin therapy may only be effective in SMAD4-expressing CRCs and may have adverse effects in SMAD4-negative tumors. 17919499 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE To investigate genetic alterations involved in the TGF-beta signaling pathway in colorectal cancer, we assayed DNA synthesis rates after treating TGF-beta and checked for genetic alterations in TGF-betaRII, TGF-betaRI, Smad2, Smad3, and Smad4 in 12 colorectal cancer cell lines. 16828225 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Loss of Smad4 expression predicts liver metastasis in human colorectal cancer. 17390050 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE In the present study, we report an inverse relationship between Smad4 and claudin-1 expression in human colorectal carcinoma tumor samples and in human colon cancer cell lines. 17308096 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Utilising a recently developed method of immunohistochemical staining for Smad4 protein, we focused on the specific impact of Smad4 protein expression on liver metastasis in colorectal cancer. 17088901 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE SMAD4 as a prognostic marker in colorectal cancer. 15814640 2005