Associated Genetic Biomarkers

Overview

NCI Definition: A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. [1]

Cholangiocarcinomas most frequently harbor alterations in TP53, IDH1, KRAS, ARID1A, and CDKN2A [2].

Most Commonly Altered Genes in Cholangiocarcinoma

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 c.142-c.212 Missense, TP53 c.1-c.137 Missense, and TP53 Missense are the most common alterations in cholangiocarcinoma [2].

Top Alterations in Cholangiocarcinoma

Significant Genes in Cholangiocarcinoma

AKT1 +

AKT2 +

AKT3 +

ALK +

APH1A +

APOBEC3A +

APOBEC3B +

APOBEC3C +

APOBEC3D +

APOBEC3G +

APOBEC3H +

ARID1A +

ATM +

ATR +

ATRX +

BAP1 +

BARD1 +

BLM +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CDK12 +

CDK2 +

CDK4 +

CDKN2A +

CDKN2B +

CHEK1 +

CHEK2 +

DLL4 +

EGFR +

ERBB2 +

ERCC1 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FAM175A +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FBXW7 +

FEN1 +

FGF19 +

FGF4 +

FGFR1 +

FGFR2 +

FGFR3 +

FGFR4 +

HDAC1 +

HDAC2 +

IDH1 +

IDH2 +

JAG1 +

KIT +

KRAS +

MAML1 +

MDM2 +

MDM4 +

MET +

MLF1 +

MLH1 +

MRE11A +

MSH2 +

MSH6 +

MUTYH +

NBN +

NCSTN +

NOTCH1 +

NOTCH2 +

NOTCH3 +

NOTCH4 +

NPM1 +

PALB2 +

PARP1 +

PARP2 +

PDGFRA +

PIK3CA +

PMS2 +

POLD1 +

PPP2R1A +

PPP2R2A +

PRKDC +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD52 +

RAD54L +

RPA1 +

SLX4 +

STAG2 +

STK11 +

TP53 +

UGT1A1 +

WRN +

XRCC1 +

Disease Details

Synonyms
cholangiosarcoma, Cholangiocellular Carcinoma, CC, Cholangiocar.- intra/extrahepatic, Cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma), CHOLANGIOCARCINOMA, MALIGNANT
Parent(s)
Bile Duct Adenocarcinoma
Children
Hilar Cholangiocarcinoma, Intrahepatic Cholangiocarcinoma, and Extrahepatic Cholangiocarcinoma
OncoTree Name
Cholangiocarcinoma
OncoTree Code
CHOL

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.