Last Updated: March 14, 2017

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What is cholangiocarcinoma?

Cholangiocarcinoma, also called bile duct cancer, is a cancer that develops in the bile duct. The bile duct is a network of tubes that carry bile from the liver and gallbladder to the small intestine.1 Tumors that start in the bile duct branches that lie inside the liver are called intrahepatic bile duct cancer,1 while those that form in the bile duct branches outside the liver are called extrahepatic bile duct cancer (hepatic derives from the Greek word for liver). About 10 percent of all cholangiocarcinoma are intrahepatic and 90 percent are extrahepatic.1 TCGA is studying both subtypes of cholangiocarcinoma.

Although a rare cancer, the incidence and mortality rates of cholangiocarcinoma have been increasing worldwide in the last three decades.2 Between 2,000 and 3,000 Americans are diagnosed with cholangiocarcinoma each year,3 the majority of them with tumors at advanced stages.1 This cancer is more prevalent in Asia and the Middle East, where parasitic infection of the bile duct increases the risk of cholangiocarcinoma.1 Other diseases of the bile duct or liver such as bile duct stones and liver disease, obesity, diabetes, and smoking are also risk factors.1 When intrahepatic and extrahepatic cholangiocarcinoma spread to other parts of the body, only two percent of patients survive five years after diagnosis.1

View additional information on extrahepatic bile duct cancer.

Cholangiocarcinoma is part of an effort to characterize rare tumor types. Read more about the Rare Tumor Projects.

The Cancer Genome Atlas (TCGA) researchers have?

  • Comprehensively characterized 38 cholangiocarcinoma tumors and identified alterations in tumor suppressor genes and oncogenes that have been observed previously by other studies
    • Alterations to the tumor suppressor genes CDKN2, BAP1, and ARID1 led to decreased expression in the cell
    • Alterations to the oncogenes FGFR2 and IDH1/2 led to high expression in the cell, promoting tumor development and growth
  • Divided cholangiocarcinomas into four subgroups based on their mRNA expression, patterns of chemical marks called DNA methylation, and numbers of copies of chromosome segments
    • A new subtype characterized by mutations in the IDH gene was identified
  • Observed that cholangiocarcinoma tumors closely resembled a subset of liver cancers analyzed by a previous TCGA study
    • This suggests that cholangiocarcinoma may be on a continuous spectrum with liver tumors

    See more about TCGA's study of cholangiocarcinoma.

    Where can I find more information about the TCGA Research Network's studies, or studies using TCGA data?

    View a list of TCGA scientific publications.

    Where can I find clinical trials to treat cholangiocarcinoma that are supported by the National Cancer Institute (NCI)?

    View a list of NCI-supported extrahepatic bile duct cancer clinical trials that are now accepting patients.

    Selected References 

    1 American Cancer Society. (2012). Bile duct cancer (cholangiocarcinoma). Retrieved from

    2 Blechacz BRA, and Gores GJ. (2008) Cholangiocarcinoma. Clin Liver Dis. 12(1):131–150.

    3 Shaib YH, Davila JA, McGlynn K, El-Serag HB. (2004) Rising incidence of intrahepatic cholangiocarcinoma in the United States: a true increase? J Hepatol. 40(3):472-477.