BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: MSI-high ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4523846
Disease: MSI-high
MSI-high 		0.040 Biomarker disease BEFREE We found that low expression of DNA repair genes (MLH1, MLH3, PMS1, PMS2, ATR, PRKDC, ATM, BRCA2) associated with MSI-H. MSI-H was directly associated with Helper T-cells (p = 0.034) and M1 macrophages (p < 0.0001). 31530839 2019
CUI: C4523846
Disease: MSI-high
MSI-high 		0.040 GeneticVariation disease BEFREE Immunohistochemistry showed that BRCA2-mutated MSI-High CRC had high c-MET (64%) expression compared with BRCA-WT (17%). 28886275 2017
CUI: C4523846
Disease: MSI-high
MSI-high 		0.040 GeneticVariation disease BEFREE Caris-profiled MSI-H CRCs had high mutation rates (50% vs 14% in non-MSI-H, P < 0.0001) in BRCA2. 28591715 2017
CUI: C4523846
Disease: MSI-high
MSI-high 		0.040 GeneticVariation disease BEFREE Among the 29 patients with BRCA1 mutations, 20.7% had MSI-high cancers compared with 5.9% among 17 patients with BRCA2 mutations. 24755492 2014