CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.150 AlteredExpression disease BEFREE Transcripts associated with BRCA1, BRCA2, ATM and CHEK2 showed altered expression in melanoma cell lines after cisplatin treatment. 23940574 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.150 GeneticVariation disease BEFREE The odds ratios for malignant melanoma for CHEK2(*)1100del heterozygotes compared with those for noncarriers were 2.01 (95% confidence interval (CI), 1.03-3.91) in Danes, 1.42 (95% CI, 0.46-4.31) in Germans, and 1.79 (95% CI, 1.02-3.17) in Danes and Germans combined. 21956126 2012
CUI: C0025202
Disease: melanoma
melanoma 		0.150 GeneticVariation disease BEFREE In conclusion, we report an increased melanoma risk among carriers of the N991D change of the BRCA2 and no association of the CHEK2 changes with malignant melanoma. 18024013 2008
CUI: C0025202
Disease: melanoma
melanoma 		0.150 GeneticVariation disease BEFREE To our knowledge, this is the first CHK1/CHK2 mutation screening in human melanoma. 17143490 2007
CUI: C0025202
Disease: melanoma
melanoma 		0.150 GeneticVariation disease BEFREE To evaluate whether this CHK2 founder mutation is associated with MM in patients with LFS syndrome, more MM cases from LFS families should be examined. 15057041 2004
CUI: C0025202
Disease: melanoma
melanoma 		0.150 CausalMutation disease CLINVAR
CUI: C0025202
Disease: melanoma
melanoma 		0.150 Biomarker disease HPO