MUC1, mucin 1, cell surface associated, 4582

N. diseases: 594; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Associations of genetic variants in the PSCA, MUC1 and PLCE1 genes with stomach cancer susceptibility in a Chinese population. 25658482 2015
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 Biomarker disease CTD_human Our results confirm an association between gastric cancer in Europeans and three loci previously reported in Asians, MUC1, PRKAA1 and PSCA, refine the association signal at PRKAA1 and support a pathogenic role for the tandem repeat identified in MUC1. 26098866 2015
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.400 Biomarker disease BEFREE It was recently approved by the FDA and EMA for use in combination with bortezomib and dexamethasone in patients with multiple myeloma who have received ≥2 prior regimens, including bortezomib and an immunomodulatory drug. 26362997 2015
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Recently, genome-wide association studies (GWAS) on Japanese and Chinese populations identified chromosome 1q22 as a GC susceptibility locus which harbors mucin 1 gene (MUC1) encoding a cell membrane-bound mucin protein. 24810688 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker for cancer susceptibility particularly for gastric cancer and for Asian population. 24755768 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are associated with GC and HRAG. 25503145 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A > G in PLCE1 at 10q23 are associated with a risk of gastric cancer in a Korean population. 24254309 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 AlteredExpression disease BEFREE MUC1 is aberrantly overexpressed by more than 50% of stomach cancers, but its role in carcinogenesis remains to be defined. 24491543 2014
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.400 Biomarker disease BEFREE Polyclonal and monoclonal antibodies generated against MUC1 SP domain specifically bind a large variety of MUC1-positive human solid and haematological tumor cell lines; MUC1-positive bone marrow derived plasma cells obtained from multiple myeloma (MM)-patients, but not MUC1 negative tumors cells, and normal naive primary blood and epithelial cells. 24416403 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 Biomarker disease BEFREE From the second candidate locus identified using the GWAS, 1q22, we found the Mucin 1 (MUC1) gene encoding a cell membrane-bound mucin protein as another gene related to diffuse-type GC. 23057512 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Association studies involving MUC1 rs4072037 polymorphism and GC risk were identified up to June 30, 2012. 24072653 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE In this two-stage study, we selected 24 putative functional tag single-nucleotide polymorphisms (tagSNPs) for six H.pylori-related host genes, MUC1, toll-like receptor 4 (TLR4), protein tyrosine phosphatase, non-receptor type 11 (PTPN11), IL-1B, PGC and PGA3-5, and analyzed their influence and interaction with H.pylori on the GA and GC risks. 23455381 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Overall, our data indicated that common genetic variations in MUC1 gene might not make a major contribution to the risk of H. pylori infection and non-cardia gastric cancer in our studied population. 24460302 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Our study suggested rs2294008 in the PSCA gene to be associated with increased risk of gastric cancer and rs2070803 in MUC1 to play a protective role in a Chinese population. 22938426 2012
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma. 22805490 2012
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.400 AlteredExpression disease BEFREE However, the functional significance of MUC1-C expression in multiple myeloma is not known. 22117045 2012
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE The SNPs rs2070803 and rs4072037 in MUC1 might be used to identify individuals at risk for this type of gastric cancer. 21070779 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Overall, our data provide evidence that some common variations in MUC1 and MUC5AC genes contribute to an elevated risk of stomach cancer. 19924550 2010
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 AlteredExpression disease BEFREE Thus we have provided evidence that may identify the MUC1 A/G polymorphism at 568 site, as a potential genetic factor which leads to an increase in susceptibility for GC through alteration of MUC1 gene and MUC1 expression in the population that carry the A allele. 19885554 2009
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.400 Biomarker disease BEFREE Moreover, the functional role of MUC1 in multiple myeloma is not known. 18575761 2008
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.400 Biomarker disease LHGDN These findings indicate that MUC1 activates the beta-catenin and NF-kappaB pathways in multiple myeloma cells and contributes to their growth and survival. 18575761 2008
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 Biomarker disease BEFREE Interaction of MUC1 with beta-catenin modulates the Wnt target gene cyclinD1 in H. pylori-induced gastric cancer. 17393422 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.400 AlteredExpression disease BEFREE MUC-1 mucin is an epithelial cell antigen whose aberrant expression plays a role in autoimmunity and tumor immunity in the majority of human carcinomas and multiple myeloma. 18158739 2007
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 Biomarker disease BEFREE We attempted to detect CTCs in patients with gastric cancer (GC) using a RT-PCR assay for c-Met and MUC1 and to evaluate their clinical value. 16403482 2006
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 AlteredExpression disease BEFREE Both CEA and MUC1 mRNA expression was correlated significantly with all malignant biological properties of GC, such as macroscopic type, depth of tumor invasion, lymph-node metastasis, TNM stage and coexisting distant metastasis (all p < 0.05). 16477642 2006