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: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE In addition to pancreaticobiliary, appendiceal and colonic tumours, SMAD4 loss is also seen in a small subset of other carcinomas, specifically breast, lung, oesophageal and gastric adenocarcinomas, all of which are typically CK7-positive, similar to pancreaticobiliary carcinoma. 31054158 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Loss of SMAD4 expression virtually excludes primary tumors of endometrial or ovarian origin, but is of less utility when evaluating carcinomas involving the cervix. 31569186 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Our data indicate that absence of KRAS, TP53 and SMAD4 genetic alterations may identify a subset of pancreatic carcinomas with better outcome. 29103024 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE SMAD4 loss occurred also in adenomas, but less extensively than in carcinomas. 26861460 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE P16 and Smad4 immunohistochemistry was performed on 34 IPMNs and 17 IPMN-associated carcinomas. 24604757 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE In this study, we examined Smad4 and Smad7 expression in gastric carcinomas to elucidate their role in tumor progression. 24659668 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE SMAD4 encodes a protein that is a central component of the TGFβ signal transduction pathway, and loss of SMAD4 expression has been associated with poor prognosis in carcinomas of the gastrointestinal tract. 24618609 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Loss of DPC4 (Smad4) expression was found in the pancreatobiliary-type carcinomas only. 24625417 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Namely, Smad4 functions as a positive transcriptional regulator of all three genes encoding laminin-332; its loss is thus implicated in the reduced or discontinuous deposition of the heterotrimeric basement membrane molecule as evident in carcinomas. 20307265 2010
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE The laser-captured microdissection-PCR-GeneScan method was applied to investigate genetic instability in both the epithelial and stromal elements of early UC-associated lesions (regenerative mucosa and dysplasia) and carcinomas using multiple microsatellite markers, chiefly close to tumor suppressor genes (TSGs: p16(INK4A), Rb, Smad4 and fragile histidine triad (FHIT)). 18415748 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Furthermore, deleted in pancreatic carcinoma locus 4 overexpression was inversely associated with Bcl-2 immunostaining (P < .01), and the apoptosis index in deleted in pancreatic carcinoma locus 4-positive carcinomas (8.65 +/- 1.46) was much higher than that in deleted in pancreatic carcinoma locus 4-negative carcinomas (2.12 +/- 0.04) (P < .05). 18620728 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE The loss of SMAD4 in gastric carcinomas was due to several mechanisms, including LOH, hypermethylation, and proteasome degradation. 17200344 2007
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Loss of SMAD4 expression was significantly more frequent in Por (12 of 38; 31%) and Sig (4 of 5; 80%) tumors than in well (Well) and moderately differentiated (Mod) carcinomas (p = 0.04, 0.003, respectively). 17167985 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Since the TGF-beta response is mediated by Smad proteins and the tumor suppressor gene Smad4 resides at 18q21, we have analysed the Smad4 gene for cervical cancer-associated alterations in cell lines and primary carcinomas. 15531914 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Expressions of DUSP6, CDKN2A, TP53, and SMAD4 were investigated by immunohistochemistry in a total of 206 lesions of dysplastic ductal precursors and carcinomas retrieved from 52 pancreata with invasive ductal carcinomas and 51 of those with intraductal papillary-mucinous neoplasms. 15832194 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE To further elucidate the role of SMAD4 dysfunction for tumor development in the small intestine, we immunohistochemically analyzed 20 sporadic, non-ampullary carcinomas for the expression of the SMAD4 protein. 15157044 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Concomitant overexpression of cyclooxygenase-2 in HER-2-positive on Smad4-reduced human gastric carcinomas is associated with a poor patient outcome. 15501972 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Mutation of the DPC4 gene was present in 14% (three of 22) of the carcinomas occurring in one tumor with chromosome 18q loss and in two with unassessed chromosome 18q status. beta-catenin gene mutation was present in 0% (0 of 25) of the carcinomas. 14647445 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Smad4 is a tumor-suppressor gene that is lost or mutated in 50% of pancreatic carcinomas. 15110786 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Two of the 21 gallbladder cancers (9.5%), 7 of the 20 intrahepatic bile duct carcinomas (35%), and five of the 10 extrahepatic bile duct carcinomas (50%) were negatively labeled for DPC4. 15573254 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE The purpose of this study was to investigate the role of DPC4 alterations in tumorigenesis and progression of pancreatic carcinomas. 14669329 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Complete loss of Dpc4 labeling was identified in 34% (95% confidence interval [CI]: 26%, 43%) of the invasive carcinomas and in none (upper 95% CI: 6%) of the associated adenomas. 12640108 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE The authors evaluated 5 noninvasive dysplasias and 33 invasive gallbladder carcinomas (6 small cell carcinomas, 27 non-small cell carcinomas, of which 16 were accompanied by an in situ carcinoma component) for expression of the protein products of the p16, p53, Dpc4, and pRB tumor suppressor genes by immunohistochemistry. 12692194 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE The SMAD4 negative index was significantly higher in invasive carcinomas than in non-invasive carcinomas. 12469138 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Smad4/DPC4, located at chromosome 18q21, was identified as a candidate tumor suppressor gene that is inactivated in nearly half of all pancreatic carcinomas. 12414627 2002