Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913530
rs121913530
KRAS
0.010 GeneticVariation BEFREE Molecular studies showed one mucinous iCC with KRAS G12C mutation and no BRAF or IDH1/2 mutations. 29698701

2018
dbSNP: rs183606230
rs183606230
CDH2
0.010 GeneticVariation BEFREE The combined evaluation of histology of CD and protein expression status of CRP, CDH2, TFF1 and S100P might help subtyping and predicting clinical outcomes of iCCA. 28608943

2018
dbSNP: rs368054556
rs368054556
KAT6A
0.010 GeneticVariation BEFREE MYST3 mutation at Q1388H detected in intrahepatic cholangiocarcinoma is reported for the first time. 29559246

2018
dbSNP: rs754332870
rs754332870
TP53
0.010 GeneticVariation BEFREE Molecular studies showed one mucinous iCC with KRAS G12C mutation and no BRAF or IDH1/2 mutations. 29698701

2018
dbSNP: rs121913499
rs121913499
IDH1
0.010 GeneticVariation BEFREE Three cases in iCC (6.5%) and five cases in HCC (10.4%) had IDH1 mutation, all of which were Arg132Cys. 28403884

2017
dbSNP: rs121913500
rs121913500
IDH1
0.010 GeneticVariation BEFREE Immunohistochemistry using monoclonal antibody MsMab-2 is useful to detect IDH1 R132L in intrahepatic cholangiocarcinoma. 27595804

2016
dbSNP: rs113488022
rs113488022
BRAF
0.010 GeneticVariation BEFREE In conclusion, we demonstrate that BRAF V600E</span> mutation is a rare event in biliary tract cancer, accounting for only 1% of all subtypes, and is restricted to intrahepatic cholangiocarcinoma. 24309328

2014
dbSNP: rs121913377
rs121913377
BRAF
0.010 GeneticVariation BEFREE In conclusion, we demonstrate that BRAF V600E</span> mutation is a rare event in biliary tract cancer, accounting for only 1% of all subtypes, and is restricted to intrahepatic cholangiocarcinoma. 24309328

2014
dbSNP: rs762846821
rs762846821
TP53
0.010 GeneticVariation BEFREE Tissue-specific activation of Kras(G12D) alone resulted in the development of invasive IHCC with low penetrance and long latency. 22266220

2012
dbSNP: rs758272654
rs758272654
GNAS
0.010 GeneticVariation BEFREE GNAS1 T393C polymorphism is associated with clinical course in patients with intrahepatic cholangiocarcinoma. 17356712

2007