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 GeneticVariation group BEFREE Potentially inactivating mutations in DPC4 were identified in six of 27 pancreatic carcinomas that did not have homozygous deletions at 18q21.1. 8553070 1996
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE We recently identified a novel tumor-suppressor gene, DPC4, at chromosome 18q21.1 and found that both alleles of DPC4 were inactivated in nearly one-half of the pancreatic carcinomas. 8653691 1996
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE DPC4 was identified in a consensus area of homozygous deletion in pancreatic carcinomas, and it is biallelically inactivated in approximately 50% of sporadic pancreatic carcinomas. 9098646 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Together with the deletion of DPC4 from pancreas carcinomas these results suggest a role for DPC4 as a tumour suppressor. 9150356 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE We tested for DPC4 gene mutations and allelic status at 18q21 in 30 primary gastric carcinomas and 5 gastric carcinoma cell lines. 9197522 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Three candidate tumor suppressor genes, DCC (deleted in colorectal carcinomas), DPC4 (deleted in pancreatic carcinomas, locus 4), and MADR2/JV18-1 (MAD-related gene 2), have been cloned and identified from this chromosome region. 9288786 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE One case of apparent biallelic inactivation of Smad4 was found in our study of 35 gastric carcinomas. 9331080 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Smad2 and Smad4/DPC4, other members of the Smad family, are possibly tumor suppressor genes because alterations of these genes occurred in various carcinomas. 9464505 1998
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Five of 32 (16%) primary biliary tract carcinomas had point mutations in the DPC4 sequence. 9515793 1998
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Smad4 is a tumor suppressor that is inactivated in about 50% of pancreatic carcinomas. 9665198 1998
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Genetic alterations of DPC4, which encodes a DNA binding protein that is a downstream component of the pathway, most frequently occur in pancreatic and biliary carcinomas. 9850059 1998
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Losses of 15q and 18q material are frequent in pancreatic carcinomas, and in order to map the extent of 15q and 18q deletions and to investigate further the involvement of SMAD4 and the possible function of SMAD2 and SMAD3 as tumor suppressor genes in pancreatic carcinoma, we performed loss of heterozygosity studies as well as mutation and expression analyses of SMAD4, SMAD2, and SMAD3 in 13 low-passage cell lines from 12 pancreatic carcinoma patients. 9892110 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE These results suggest that DPC4 is an important target gene promoting tumorigenesis of non-functioning neuroendocrine pancreatic carcinomas. 10327057 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Loss of the other allele was observed in 19 of 20 (95%) invasive and metastasized carcinomas with Smad4 mutations. 10340381 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE We recently identified DPC4/Smad4 as a candidate tumor suppressor gene mutated or lost in one half of pancreatic carcinomas and in a subset of colon and biliary tract carcinomas. 10340387 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE The DPC4 gene (also known as SMAD4) was located in this region, and was found to be inactivated by intragenic mutations in another 20% of pancreatic carcinomas. 10436786 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE The sensitivity and specificity of immunohistochemical labeling for Dpc4 in other periampullary carcinomas has yet to be determined. 10623651 2000
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Bi-allelic inactivation of the MADH4/DPC4/SMAD4 gene at 18q21.1 is seen in about half of pancreatic carcinomas with 18q LOH. 10719364 2000
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE In three cases, the pattern of Dpc4 expression in the PanIN-3 lesions did not match the pattern of expression in the associated infiltrating carcinomas, indicating that these high-grade lesions did not simply represent infiltrating carcinoma growing along benign ducts. 10766191 2000
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE The strong and almost universal expression of Dpc4 in IPMNs contrasts sharply with the loss of Dpc4 expression seen in approximately 30% of in situ adenocarcinomas of the pancreas (so-called pancreatic intraepithelial neoplasms, grade 3; P: < 0.001) and in 55% of pancreatic duct carcinomas (P: < 0.0001). 10980115 2000
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE On the contrary, Smad-4 gene levels were elevated in carcinomas when compared to that of adenomas. 11196469 2000
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE In addition, mutational analysis of K-ras codon 12, APC, and p53 and immunohistochemistry for Smad4 expression were performed on all carcinomas. 11215281 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE These results demonstrate that abnormalities in DPC4 and p53 gene expression are frequent in distal common bile duct carcinomas, just as they are in pancreatic ductal adenocarcinoma, suggesting that these two tumor types might share a similar molecular pathogenesis. 11283934 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Abnormal p53 and Dpc4 protein expression was only rarely identified in PanIN-2 lesions, but occurred frequently in PanIN-3 lesions and invasive carcinomas. 11337365 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE DNA sequencing and immunohistochemical staining for Smad4/DPC4, which often is homozygously mutated in pancreatic and colon carcinomas, revealed no aberrations. 11351300 2001