Article
Mutational processes of tobacco smoking and APOBEC activity generate protein-truncating mutations in cancer genomes.
Science advances - 3 Nov 2023
Adler Nina, Bahcheli Alexander T, Cheng Kevin C L, Al-Zahrani Khalid N, Slobodyanyuk Mykhaylo, Pellegrina Diogo, Schramek Daniel, Reimand Jüri
Abstract excerpt
Mutational signatures represent a genomic footprint of endogenous and exogenous mutational processes through tumor evolution. However, their functional impact on the proteome remains incompletely understood. We analyzed the protein-coding impact of single-base substitution (SBS) signatures in 12,341 cancer genomes from 18 cancer types. Stop-gain mutations (SGMs) (i.e., nonsense mutations) were strongly enriched...
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