Genetic landscape of gallbladder cancer: Global overview

Ravi Mehrotra, Sonam Tulsyan, Showket Hussain, Balraj Mittal, Sundeep Singh Saluja, Sandeep Singh, Pranay Tanwar, Asiya Khan, Milind Javle, Manal M. Hassan, Shubham Pant, Xabier De Aretxabala, Bhawna Sirohi, Preetha Rajaraman, Tanvir Kaur, G. K. Rath

Research output: Contribution to journalReview articlepeer-review

38 Scopus citations

Abstract

Gallbladder cancer (GBC) is a rare malignancy of biliary tract cancer (BTC), characterized by late presentation and poor prognosis. It exhibits wide geographical as well as ethnical variations. So, diverse epidemiology along with etiological factors have been discussed in the current article. Present review unravels the germ line polymorphisms contributing to GBC susceptibility through candidate gene approach and GWAS. GBC is enriched with multiple mutations consisting of both passenger and driver mutations. The identification of the hotspot driver mutations which are involved in the etiopathogenesis of this cancer is necessary, before targeted therapies could be implemented clinically. Thus, this review sheds lights on both traditional low throughput methods along with high throughput NGS used to determine somatic mutations in cancer. With the advent of GWAS and high throughput sequencing methods, it is possible to comprehend the mutational landscape of this enigmatic disease. This article is the first one to provide insights into the genetic heterogeneity of GBC along with somatic mutational data from Catalogue of Somatic Mutations in Cancer (COSMIC) database. In addition, management of tumor heterogeneity as a therapeutic challenge has been discussed. Future goals involve liquid biopsy based research for better clinical management of the disease. Therefore, research efforts involving discovery of non- invasive markers for early stage cancer detection along with novel therapies should be directed.

Original languageEnglish (US)
Pages (from-to)61-71
Number of pages11
JournalMutation Research - Reviews in Mutation Research
Volume778
DOIs
StatePublished - Oct 1 2018

Keywords

  • Cancer
  • Candidate gene
  • Gallbladder
  • Genome wide association
  • Germline
  • Mutations
  • Next generation sequencing
  • Somatic

ASJC Scopus subject areas

  • Genetics
  • Health, Toxicology and Mutagenesis

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