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 UNIPROT
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE The DPC4 gene may play a role as a tumor-suppressor gene in a fraction of colorectal cancers; however, while allelic loss at 18q21 is very often seen in colorectal cancers, only a minority show DPC4 mutations, suggesting that there might be another tumor-suppressor gene in this chromosome region. 8898652 1996
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Twenty-five of 84 tumors had homozygous deletions at 18q21.1, a site that excludes DCC (a candidate suppressor gene for colorectal cancer) and includes DPC4, a gene similar in sequence to a Drosophila melanogaster gene (Mad) implicated in a transforming growth factor-beta (TGF-beta)-like signaling pathway. 8553070 1996
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE RT-PCR sequencing analysis of the HL60 Smad5 remaining allele ruled out the functional inactivation of the gene analogous to that occurring in the Smad5 homologs DPC4 and Smad2 in cases of pancreatic and colorectal cancers. 9264367 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE These data suggest that DPC4 is rarely if ever mutated during prostatic oncogenesis, whereas inactivation of this gene may contribute to the genesis of a subset of colorectal carcinomas. 9285566 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE DPC4 and MADR2/JV18-1 are recently demonstrated to be altered in pancreatic and colorectal cancers, respectively. 9288786 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Even in combination with changes in SMAD-4, the observed frequency was not sufficient to account for all 18q21 deletions in colorectal cancers. 9820171 1998
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 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 AlteredExpression disease BEFREE Our data show selective up-regulation of receptor-activated Smad proteins in human colorectal cancers and suggest involvement of Smad4 in differentiation and apoptosis of surface epithelial cells of normal crypts. 10389752 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE These data suggest that the carcinogenetic pathways of protruding and superficial depressed colorectal cancers are different, and that alterations of tumor suppressor gene(s) located on 18q21 other than Smad2, Smad4 and DCC might be associated with most superficial depressed colorectal cancers. 10665650 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Higher frequency of Smad4 gene mutation in human colorectal cancer with distant metastasis. 10340381 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Somatic SMAD4 mutations have been detected in some colorectal carcinomas. 10993648 2000
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 GeneticVariation disease BEFREE We investigated the prevalence of DPC4 loss of heterozygosity in sporadic colorectal cancer. 11357936 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Our findings suggest that somatic alteration of the DPC4 gene may play a role in tumorigenesis and liver metastasis of human colorectal cancers. 11172591 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Nuclear localization of Dpc4 (Madh4, Smad4) in colorectal carcinomas and relation to mismatch repair/transforming growth factor-beta receptor defects. 11159190 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE Although SMAD4 mutations have been associated with late-stage or metastatic disease, our combined molecular and cytogenetic data best fit a model in which SMAD4 mutations occur before colorectal cancers become aneuploid/polyploid, but after the MSI(+) and MSI(-) pathways diverge. 11481457 2001
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 Biomarker disease BEFREE Moreover, these results may provide a refinement at the gene level of the clinical relevance of 18q21 deletion, thereby suggesting SMAD4 as a predictive marker in colorectal cancer. 12237773 2002
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation disease BEFREE These results indicate that whereas Smad4 point mutations are prevalent in pancreatic carcinoma, they are infrequent in early stages (I-III) of colorectal cancer. 12569386 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE However, thus far few studies have analyzed the impact of numerical abnormalities of chromosomes 17 and 18, which carry the p53 and DCC plus SHAD4/DPC4 genes involved in colorectal cancer, on the clinical and biological behaviors of the disease. 12500293 2003
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 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