Cholangiocarcinoma
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
Cholangiocarcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thus, IDH1 mutation is a molecular feature of cholangiocarcinomas of intrahepatic origin.
|
22180306 |
2012 |
Cholangiocarcinoma
|
0.600 |
Biomarker
|
disease |
CTD_human |
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.
|
24185509 |
2013 |
Cholangiocarcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Isocitrate dehydrogenase (IDH) genes 1 and 2 are frequently mutated in acute myeloid leukaemia (AML), low-grade glioma, cholangiocarcinoma (CC) and chondrosarcoma (CS).
|
23863747 |
2013 |
Cholangiocarcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Tumors with IDH1 or IDH2 mutations may represent a distinct subtype of cholangiocarcinomas.
|
24569570 |
2014 |
Cholangiocarcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
An example is the identification of arginine missense mutations of isocitrate dehydrogenases-1 and -2 (IDH1/2) in glioma, acute myeloid leukemia (AML), chondrosarcomas, and cholangiocarcinoma.
|
25787993 |
2015 |
Cholangiocarcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Finally, in somatic mutation analysis, tumor-normal paired 14 tissue and 6 bile samples were analyzed, genomic alterations of EGFR, FGFR1, ABL1, PIK3CA, and CDKN2A gene were seen in the diffusely infiltrating type CC, and TP53, KRAS, APC, GNA11, ERBB4, ATM, SMAD4, BRAF, and IDH1 were altered in the mass-forming type CC group.
|
27460275 |
2016 |
Cholangiocarcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.
|
28297679 |
2017 |
Cholangiocarcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
For example, IDH catalytic site mutations and constitutively active FGFR2 fusion genes are predominantly identified in iCCA, whereas KRAS mutations and PRKACB fusions genes are identified in pCCA and dCCA.
|
28844952 |
2018 |
Cholangiocarcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hepatocellular carcinoma and choangiocarcinoma display heterogeneity at both morphologic and molecular levels Cholangiocellular carcinoma is most commonly associated with IDH 1/2 mutations.
|
29776636 |
2018 |
Cholangiocarcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Safety and activity of ivosidenib in patients with IDH1-mutant advanced cholangiocarcinoma: a phase 1 study.
|
31300360 |
2019 |
Cholangiocarcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Ivosidenib (AG-120) is a targeted mutant IDH1 inhibitor under evaluation in a phase 1 dose escalation and expansion study of IDH1-mutant advanced solid tumors including cholangiocarcinoma, chondrosarcoma, and glioma.
|
31028664 |
2020 |