Overview

NCI Definition: A malignant tumor arising from the epithelium of the intrahepatic or extrahepatic bile duct. Carcinomas that arise from the intrahepatic bile ducts and the hepatic ducts are called cholangiocarcinomas and are almost always adenocarcinomas. Carcinomas that arise from the extrahepatic bile ducts are adenocarcinomas, adenosquamous carcinomas, squamous cell carcinomas, small cell carcinomas, or mucoepidermoid carcinomas. [1]

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

Most Commonly Altered Genes in Bile Duct Carcinoma

TP53 Mutation, KRAS Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, and KRAS Exon 2 Mutation are the most common alterations in bile duct carcinoma [2].

Top Alterations in Bile Duct Carcinoma

Significant Genes in Bile Duct Carcinoma

AKT1 +

ALK +

ATM +

ATR +

BRAF +

BRCA1 +

BRCA2 +

CCND1 +

CDK12 +

CDK4 +

CDK6 +

CDKN2A +

CHEK2 +

CSF1R +

EGFR +

EPCAM +

ERBB2 +

ERBB3 +

EXO1 +

FANCA +

FGFR1 +

FGFR2 +

FGFR3 +

FLT1 +

FLT3 +

FLT4 +

IDH1 +

KDR +

KIT +

MET +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MST1R +

MTOR +

NBN +

NRG1 +

NTRK1 +

NTRK2 +

NTRK3 +

PALB2 +

PCNA +

PDGFRA +

PDGFRB +

PIK3CA +

PMS1 +

PMS2 +

POLD1 +

POLE +

RAD51C +

RAF1 +

RET +

RFC1 +

RFC2 +

RFC3 +

RFC4 +

RFC5 +

ROS1 +

RPA1 +

RPA2 +

RPA3 +

RPA4 +

SSBP1 +

TSC1 +

TSC2 +

VHL +

Disease Details

Synonyms
Bile Duct Cancer
Parent(s)
Malignant Bile Duct Neoplasm
Children
Extrahepatic Bile Duct Carcinoma and Bile Duct Adenocarcinoma

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 8. 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.