IRF4, interferon regulatory factor 4, 3662

N. diseases: 203; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE IRF4 rs12203592*T was associated with BRAF V600E (odds ratio [OR] = 0.59, 95% confidence interval [CI] = 0.43-0.79) and V600K (OR = 0.65, 95% CI = 0.41-1.03), but not BRAF other or NRAS+ melanoma. 29753029 2018
CUI: C0025202
Disease: melanoma
melanoma
0.100 AlteredExpression disease BEFREE Further, higher IRF4 protein levels directed by the rs12203592*C allele were associated with increased basal proliferation but decreased cell viability following UVR, an etiological factor in melanoma development. 28755520 2018
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE These findings suggest for the first time that IRF4 rs12203592 plays a role in the modulation of melanoma outcome and confirms its contribution to the localization of the primary tumour. 28103633 2017
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE We hypothesize that IRF4 rs12203592 could underlie in part the bimodal age distribution reported for melanoma and linked to the divergent pathways. 26857527 2016
CUI: C0025202
Disease: melanoma
melanoma
0.100 AlteredExpression disease BEFREE Our results show that IRF4 is overexpressed in melanoma, in addition to previously reported contexts including leukemia, myeloma, and lymphoma, and that IRF4 is associated with a unique gene expression pattern in each context. 25207815 2014
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE A second polymorphism, rs12203592, located on the IRF4 gene was associated with protection to develop MM for the dominant model (p-value 0.037). 23537197 2013
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC). 21270109 2011
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Our results suggest that the relationship between MTAP and melanoma is subtype-specific, and that the association between IRF4 and melanoma is more evident for cases with a younger age at onset. 21962134 2011
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE IRF4 variants have age-specific effects on nevus count and predispose to melanoma. 20602913 2010
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease LHGDN With the exception of desmoplastic and spindle cell melanomas, MUM1 appears to be a sensitive and specific immunohistochemical stain for melanocytic lesions and may prove to be a useful addition to the current panel of melanoma markers. 12920225 2003