MRC1, mannose receptor C-type 1, 4360

N. diseases: 431; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE In this report, we show that such hybrid cell lines can also be a valuable tool in the study of the mutated MMR proteins, in particular the variants found in hereditary nonpolyposis colon cancer families that carry missense mutations and where it is unclear whether they predispose to colon cancer. 11691782 2001
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE To evaluate the impact of the 12-gene Colon Cancer Recurrence Score Assay-a clinically validated prognosticator in stage II colon cancer after surgical resection-on adjuvant treatment decisions in T3 mismatch repair proficient (MMR-P) stage II colon cancer in clinical practice. 26797240 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Colon cancer was more frequently located in the proximal colon and showed an earlier age at onset in families with MMR gene mutation or with MSI than in families with stable tumors. 11494233 2001
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE The aim of the present article was to report the case of a colon cancer patient with Lynch syndrome who showed unusual cytoplasmic MMR protein localization. 27896849 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE For patients with stage II CC, 112 of 141 (79%) would use MMR status to assist AC recommendations, and 97 (69%) thought it changed their practice. 26002619 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE We examined MMR status as a predictor of adjuvant therapy benefit in patients with stages II and III colon cancer. 20498393 2010
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Here, we take a step toward an analogous system for the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) that confer colon cancer susceptibility in Lynch syndrome by calibrating in silico tools to estimate prior probabilities of pathogenicity for MMR gene missense substitutions. 22949387 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Hyperthermia effects on Hsp27 and Hsp72 associations with mismatch repair (MMR) proteins and cisplatin toxicity in MMR-deficient/proficient colon cancer cell lines. 26043026 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Mismatch repair (MMR) gene is closely related to the pathogenesis of colon cancer. 26142736 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Our results suggest that MMR-deficient colon carcinoma cells are hypersensitive to inhibitors of the pol reaction. 15737691 2005
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Costs and quality-adjusted life-years (QALYs) were estimated for stage II, T3, MMR-P colon cancer patients using guideline-compliant, state-transition probability estimation methods in a Markov model. 25154747 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE To the best of our knowledge, this is the first documented case of synchronous colon and prostate cancers, with isolated PMS2 loss present in the colon cancer while intact DNA mismatch repair (MMR) protein expressions present in the prostate cancer, in the English literature. 30061258 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Immunohistochemistry (IHC) for MMR proteins and/or MSI analysis are screening tests that are done, either by themselves or in conjunction, on colon cancer tissue to identify individuals at risk for LS. 24383517 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE To investigate the prevalence of the microsatellite instability related to mismatch repair (MMR) gene defects using a panel of six microsatellite markers, as recommended by a recent workshop on microsatellite instability in colon cancer, because it is still unclear whether abnormalities in DNA MMR genes are involved in transitional cell carcinoma (TCC) of the bladder. 10688097 2000
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression disease BEFREE Current theories of malignant transformation postulate that development of colon cancer is related to 2 main pathways; the loss of heterozygosity pathway, which is usually due to a defect in the adenomatous polyposis coli APC gene and microsatellite instability, which is usually due to a defect in mismatch repair MMR genes. 15756347 2005
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression disease BEFREE Owing to a tight correlation between MSI-high, inactivating mutations of MMR genes and MMR protein expression in colon cancer, MMR protein expression commonly is used as a marker for MSI. 11774265 2002
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression disease BEFREE Women with loss of MMR protein expression were compared to women with intact tumor protein expression and were less likely to be stage I (58.6% vs 78.0%; P = 0.043), more likely to have grade 3 tumors (32.1% vs 13.9%; P = 0.034), had larger tumors (6.2 vs 3.7 cm; P < 0.001), had positive lymph nodes more often (24.1% vs 3.7%; P < 0.001), and more often reported a first-degree relative with colon cancer (17.2% vs 1.2%; P < 0.001). 23552806 2013