Publication date: Available online 23 August 2018
Source: Mutation Research/Reviews in Mutation Research
Author(s): Ravi Mehrotra, Sonam Tulsyan, Showket Hussain, Balraj Mittal, Sundeep Singh Saluja, Sandeep Singh, Pranay Tanwar, Milind Javle, Manal M. Hassan, Shubham Pant, Xabier De Aretxabala, Bhawna Sirohi, Preetha Rajaraman, Tanvir Kaur, G.K. Rath
Abstract
Gallbladder cancer (GBC) is a rare malignancy of biliary tract cancer (BTC) due to late presentation and poor prognosis. It exhibits wide geographical as well as ethnical variations. The development of GBC has been associated with several genetic and environmental factors. Although many studies have elucidated the role of genetic alterations in GBC, the etiopathogenesis of this carcinoma still has not been fully understood. This review aims to highlight the genetic landscape of GBC through various approaches, such as those of candidate genes; genome-wide association studies and high throughput sequencing. The literature on meta-analysis has also highlighted the significance of genetic aberrations in GBC carcinogenesis. Therefore, identification of the hotspot mutations which are involved in the etiopathogenesis of this cancer is necessary, before targeted therapies could be implemented clinically. 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, this article throws light on the management of tumor heterogeneity as a therapeutic challenge. Furthermore, future prospects involve implications of liquid biopsy based research in clinical management.
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