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: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 GeneticVariation disease BEFREE The findings implicate epithelial tension and matricellular fibrosis in the aggressiveness of SMAD4 mutant pancreatic tumors and highlight STAT3 and mechanics as key drivers of this phenotype. 27089513 2016
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 AlteredExpression disease BEFREE DPC4/SMAD4 mutations are associated with aggressive pancreatic cancer.In this issue of Cell, Whittle et al. demonstrate that Runx3 expression combined with Dpc4/Smad4 status can predict the metastatic propensity of pancreatic tumors, providing valuable guidance for personalized therapy for patients with pancreatic cancer. 26046433 2015
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
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: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 Biomarker disease BEFREE We previously reported that Smad4-negative pancreatic tumors contain fewer stromal S100A8-positive monocytes than their Smad4-positive counterparts. 20622003 2010
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 Biomarker disease BEFREE We showed that the absence of Smad4 alone did not trigger pancreas tumor formation; however, it increased the expression of an inactivated form of Pten, suggesting a role of Pten in preventing Smad4-/- cells from undergoing malignancy. 19901970 2010
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 AlteredExpression disease LHGDN Inhibition of STAT3 Tyr705 phosphorylation by Smad4 suppresses transforming growth factor beta-mediated invasion and metastasis in pancreatic cancer cells. 18519681 2008
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 GeneticVariation disease BEFREE We show here that concomitant expression of Kras(G12D) and haploinsufficiency of the Smad4/Dpc4 tumor suppressor gene engenders a distinct class of pancreatic tumors, mucinous cystic neoplasms (MCNs), which culminate in invasive ductal adenocarcinomas. 17349581 2007
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 GeneticVariation disease BEFREE Mutation or deletion of Smad4 is found in about 50% of pancreatic tumors and in about 15% of colorectal tumors. 16135802 2005
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 AlteredExpression disease LHGDN Immortalizing the complexity of cancer metastasis: genetic features of lethal metastatic pancreatic cancer obtained from rapid autopsy. 15846069 2005
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 GeneticVariation disease LHGDN Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors. 15014009 2004
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 AlteredExpression disease BEFREE Therefore, DPC4 inactivation by mutation or deletion appears to be very rare in PET, which confirms the current concept of unrelated mechanisms of tumorigenesis of endocrine versus exocrine pancreatic tumors. 14639103 2003
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 GeneticVariation disease LHGDN [Alterations in DPC4 gene in pancreatic cancers]. 11783110 2001
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 Biomarker disease BEFREE Loss of Smad4 function in pancreatic tumors: C-terminal truncation leads to decreased stability. 11553622 2001
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 GeneticVariation disease BEFREE Mutations of the DPC4/Smad4 gene in neuroendocrine pancreatic tumors. 10327057 1999
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 CausalMutation disease CGI
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 Biomarker disease CTD_human
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 GenomicAlterations disease CGI
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.700 Biomarker disease HPO