Nature Genetics · 2024 · 53 citations · 93 references
MedicineMolecular GeneticsOncologyCancer GeneticsGenome EditingMolecular OncologyCancer Genome SequencingCancer GenomicsCancer TranscriptomicsDrug Resistance GenomicsTherapeutic ResistanceCausal Effects Of Genetic VariantsCrispr-cas Base Editing SystemsDrug Resistance TranscriptomicsEgfr InhibitionEpidermal Growth Factor Receptor InhibitionGenetic Alterations In ResistanceMolecular Drug ResistanceVariant-to-gene Mapping
Drug resistance is a principal limitation to the long-term efficacy of cancer therapies. Cancer genome sequencing can retrospectively delineate the genetic basis of drug resistance, but this requires large numbers of post-treatment samples to nominate causal variants. Here we prospectively identify genetic mechanisms of resistance to ten oncology drugs from CRISPR base editing mutagenesis screens in four cancer cell lines using a guide RNA library predicted to install 32,476 variants in 11 cancer genes. We identify four functional classes of protein variants modulating drug sensitivity and use single-cell transcriptomics to reveal how these variants operate through distinct mechanisms, including eliciting a drug-addicted cell state. We identify variants that can be targeted with alternative inhibitors to overcome resistance and functionally validate an epidermal growth factor receptor (EGFR) variant that sensitizes lung cancer cells to EGFR inhibitors. Our variant-to-function map has implications for patient stratification, therapy combinations and drug scheduling in cancer treatment.
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Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
Alexis C. Komor, Y. Bill Kim, Michael S. Packer et al. · Nature · 2016 · 5.4K citations · Full text
COSMIC: the Catalogue Of Somatic Mutations In Cancer
John Tate, Sally Bamford, Harry Jubb et al. · Nucleic Acids Research · 2018 · 5.3K citations · Full text
Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage
Nicole M. Gaudelli, Alexis C. Komor, Holly A. Rees et al. · Nature · 2017 · 4.2K citations · Full text