Geographic and genetic diversity in gallbladder cancer mutation profiles: insights from a worldwide exome analysis
Sequencing 262 gallbladder tumours from Chile, China, India, Japan and South Korea showed that the mutations differ by country and ancestry, with Chinese tumours carrying the most mutations and Chilean the fewest.
Overview
Whole-exome sequencing of 262 gallbladder cancer tumour-normal pairs from Chilean, Chinese, Indian, Japanese and South Korean patients, analysed with a unified pipeline for gene mutations and mutational signatures, with individual ancestry proportions estimated and related to genomic profiles. Tumour mutation burden was highest in China and lowest in Chile. The authors conclude that gallbladder cancer shows marked geographic and genetic heterogeneity in mutation profiles with implications for prevention and targeted therapy in high-incidence regions. Funded by the EU Horizon 2020 programme (grant 825741).
- 262 tumour-normal exome pairs from five countries; tumour mutation burden highest in China and lowest in Chile.
- Mutation profiles vary with geography and genetic ancestry.
Targeted therapy prevalence estimates from one country may not hold in another, so a UK cohort, with its own ancestry mix, would need its own molecular survey before assuming HER2 or other rates from Asian or Latin American series.
- Cohort sizes per country are modest and recruited from referral centres.
- Abstract figures beyond the mutation burden comparison are not indexed.
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