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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 Biomarker disease BEFREE Immunohistochemistry (IHC) for mismatch repair (MMR) proteins is an established test to identify Lynch syndrome (LS) in patients with colorectal cancer and is being increasingly used to identify LS in women with endometrial and/or nonserous ovarian cancer (OC). 30864976 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 Biomarker disease BEFREE MMR gene may be a potential prognosis predictor in ovarian cancer. 29063235 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 Biomarker disease BEFREE However, 167 of 462 patients (36%) had not registered with a Hereditary Cancer Clinic in NSW/ACT, including 11 women with high-grade serous ovarian cancer and seven women with abnormal MMR immunohistochemistry. 27530527 2016
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 Biomarker disease BEFREE Only 4 cases (12.5%) that had specific MMR protein loss showed the same type of loss for both endometrial and ovarian tumors, in which 3 of the cases were losses in MLH1. 25695547 2015
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 GeneticVariation disease BEFREE The incidence of germline MMR gene mutations in ovarian cancer is only 2% but other mechanisms of gene inactivation mean that loss of expression of one of the seven main genes (MSH2, MSH3, MSH6, MLH1, MLH3, PMS1 and PMS2) occurs in up to 29% of cases. 24333356 2014
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 PosttranslationalModification disease BEFREE Studies examining MSI, loss of MMR gene expression by IHC staining and MLH1 promoter hypermethylation in ovarian cancer were identified by a systematic literature search of the PubMed electronic database through August 31, 2009. 21140452 2011
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 GeneticVariation disease BEFREE The purpose of this retrospective multicentre study was to describe survival in carriers of pathogenic mutations in one of the MMR genes, and who had contracted ovarian cancer. 19635727 2010
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 GeneticVariation disease BEFREE No significant correlation was found between the frequency of ovarian cancer and MMR gene mutation status in the families. 18972272 2008
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 GeneticVariation disease BEFREE Occurrence of childhood tumors in hereditary cancer syndromes such as BRCA1/2 associated breast and ovarian cancer, DNA-mismatch repair (MMR) genes associated hereditary non polyposis colorectal cancer and CDKN2A associated familial malignant melanoma are very little studied. 18481196 2008
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 GeneticVariation disease BEFREE We performed a large multicentre case-control study to investigate associations of common variations in MMR genes and ovarian cancer using a single nucleotide polymorphism (SNP) tagging approach. 16774946 2006
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 GeneticVariation disease BEFREE In hereditary nonpolyposis colorectal cancer (HNPCC), women with a mismatch repair (MMR) gene mutation have a cumulative lifetime risk of 25-50% for endometrial cancer and 8-12% for ovarian cancer. 14529665 2003