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: C0878500
Disease: Intraepithelial Neoplasia
Intraepithelial Neoplasia
0.030 GeneticVariation disease BEFREE The current model of tumorigenesis, based on analyses of precursor lesions, termed pancreatic intraepithelial neoplasm (PanINs) lesions, makes two predictions: first, that pancreatic cancer develops through a particular sequence of genetic alterations (KRAS, followed by CDKN2A, then TP53 and SMAD4); and second, that the evolutionary trajectory of pancreatic cancer progression is gradual because each alteration is acquired independently. 27732578 2016
CUI: C0878500
Disease: Intraepithelial Neoplasia
Intraepithelial Neoplasia
0.030 GeneticVariation disease BEFREE The increased neoplastic risk may result from SMAD-4 mutations in the stromal component, which stimulate epithelial dysplasia and progression to invasive malignancy. 11352305 2001
CUI: C0878500
Disease: Intraepithelial Neoplasia
Intraepithelial Neoplasia
0.030 AlteredExpression disease 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