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Genetic ancestry contributes to somatic mutations in lung cancers from admixed Latin American populations

Jian Carrot-Zhang,G. Soca-Chafre,15 Autori,M. Meyerson

2020 · DOI: 10.1101/2020.09.01.20183913
medRxiv · 82 citazioni

TLDR

Genomic and ancestry analysis of 1,153 lung cancers from Latin America revealed striking associations between Native American ancestry and their somatic landscape, including tumor mutational burden, and specific driver mutations in EGFR, KRAS, and STK11.

Abstract

Inherited lung cancer risk, particularly in non-smokers, is poorly understood. Genomic and ancestry analysis of 1,153 lung cancers from Latin America revealed striking associations between Native American ancestry and their somatic landscape, including tumor mutational burden (TMB), and specific driver mutations in EGFR, KRAS, and STK11. A local Native American ancestry risk score predicted EGFR and KRAS mutation frequency more strongly than global ancestry, suggesting that germline genetics (rather than environmental exposure) underlie these disparities.