Current challenges to underpinning the genetic basis for cholangiocarcinoma

Expert Rev Gastroenterol Hepatol. 2021 May;15(5):511-526. doi: 10.1080/17474124.2021.1915128. Epub 2021 Apr 23.

Abstract

Areas covered: This review provides an overview regarding the current scenario and knowledge of the CCA genomic landscape and the potentially actionable molecular aberrations in each CCA subtype.

Expert opinion: The establishment and advances of high-throughput methodologies applied to genetic and epigenetic profiling are changing many cancer types' therapeutic landscape , including CCA.The large body of data generated must be interpreted appropriately and eventually implemented in clinical practice. The following advancements toward precision medicine in CCA management will require designing better clinical trials with improved methods to stratify biliary tumor patients.

Keywords: Cholangiocarcinoma; driver mutations; epigenetics; genomic landscape; molecular pathogenesis; molecular profiling; next-generation sequencing; precision medicine; predictive biomarkers; targeted therapies.

Publication types

  • Review

MeSH terms

  • Bile Duct Neoplasms / epidemiology
  • Bile Duct Neoplasms / genetics*
  • Bile Duct Neoplasms / pathology
  • Bile Duct Neoplasms / therapy
  • Biomarkers, Tumor / genetics
  • Cholangiocarcinoma / epidemiology
  • Cholangiocarcinoma / genetics*
  • Cholangiocarcinoma / pathology
  • Cholangiocarcinoma / therapy
  • Combined Modality Therapy
  • Epigenesis, Genetic
  • Gene Expression Profiling
  • Humans
  • Molecular Targeted Therapy
  • Mutation
  • Precancerous Conditions / genetics*
  • Risk Factors

Substances

  • Biomarkers, Tumor