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Gene Mutations and Its Clinical Significance

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Diseases of the Gallbladder

Abstract

Gallbladder cancer (GBC) is a rare malignancy of biliary tract cancer (BTC), characterized by late presentation and poor prognosis. It exhibits wide geographical and ethnical variations. With the recent advance of genomic sequencing, the genetic landscape of GBC is explored based on different approaches including candidate gene approach, GWAS, and other high-throughput sequencing methods. GBC is enriched with multiple mutations, from germline polymorphisms such as genetic susceptibility of DCC and ABCB4 variants to somatic mutations including TP53, KRAS, PI3K/AKT/mTOR pathway, chromatin-remodeling pathway, and ErbB pathway genes in GBC tissues. The further understanding of gene mutation in GBC carcinogenesis will be available to targeted therapy-based approaches for better clinical recommendations in the future.

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Authors and Affiliations

  1. Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea

    Sang Hoon Lee & Seung Woo Park

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  1. Sang Hoon Lee
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  2. Seung Woo Park
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Correspondence to Seung Woo Park .

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  1. Department of Internal Medicine, NHIS Ilsan Hospital, Goyang-si, Kyonggi-do, Korea (Republic of)

    Jae Bock Chung

  2. Department of Internal Medicine, Kouri Hospital, Kansai Medical University, Neyagawa, Osaka, Japan

    Kazuichi Okazaki

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Lee, S.H., Park, S.W. (2020). Gene Mutations and Its Clinical Significance. In: Chung, J., Okazaki, K. (eds) Diseases of the Gallbladder. Springer, Singapore. https://doi.org/10.1007/978-981-15-6010-1_16

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  • DOI: https://doi.org/10.1007/978-981-15-6010-1_16

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