Mutational signatures: emerging concepts, caveats and clinical applications
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …
Thanks to the sheer power provided by the thousands of mutations present in each patient's …
[HTML][HTML] Therapeutic and prognostic insights from the analysis of cancer mutational signatures
The somatic mutations in each cancer genome are caused by multiple mutational
processes, each of which leaves a characteristic imprint (or 'signature'), potentially caused …
processes, each of which leaves a characteristic imprint (or 'signature'), potentially caused …
[HTML][HTML] Enhanced prime editing systems by manipulating cellular determinants of editing outcomes
While prime editing enables precise sequence changes in DNA, cellular determinants of
prime editing remain poorly understood. Using pooled CRISPRi screens, we discovered that …
prime editing remain poorly understood. Using pooled CRISPRi screens, we discovered that …
Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
A Degasperi, X Zou, T Dias Amarante… - Science, 2022 - science.org
Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses,
revealing mutational signatures, imprints of DNA damage, and repair processes that have …
revealing mutational signatures, imprints of DNA damage, and repair processes that have …
[HTML][HTML] Prime editing efficiency and fidelity are enhanced in the absence of mismatch repair
J Ferreira da Silva, GP Oliveira, EA Arasa-Verge… - Nature …, 2022 - nature.com
Prime editing (PE) is a powerful genome engineering approach that enables the introduction
of base substitutions, insertions and deletions into any given genomic locus. However, the …
of base substitutions, insertions and deletions into any given genomic locus. However, the …
[HTML][HTML] Somatic mutation rates scale with lifespan across mammals
The rates and patterns of somatic mutation in normal tissues are largely unknown outside of
humans,,,,,–. Comparative analyses can shed light on the diversity of mutagenesis across …
humans,,,,,–. Comparative analyses can shed light on the diversity of mutagenesis across …
[HTML][HTML] The chemotherapeutic drug CX-5461 is a potent mutagen in cultured human cells
GCC Koh, S Boushaki, SJ Zhao, AM Pregnall… - Nature Genetics, 2024 - nature.com
The chemotherapeutic agent CX-5461, or pidnarulex, has been fast-tracked by the United
States Food and Drug Administration for early-stage clinical studies of BRCA1-, BRCA2-and …
States Food and Drug Administration for early-stage clinical studies of BRCA1-, BRCA2-and …
Somatic evolution of marine transmissible leukemias in the common cockle, Cerastoderma edule
Transmissible cancers are malignant cell lineages that spread clonally between individuals.
Several such cancers, termed bivalve transmissible neoplasia (BTN), induce leukemia-like …
Several such cancers, termed bivalve transmissible neoplasia (BTN), induce leukemia-like …
The evolution of two transmissible cancers in Tasmanian devils
Tasmanian devils have spawned two transmissible cancer lineages, named devil facial
tumor 1 (DFT1) and devil facial tumor 2 (DFT2). We investigated the genetic diversity and …
tumor 1 (DFT1) and devil facial tumor 2 (DFT2). We investigated the genetic diversity and …
[HTML][HTML] Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells
Cellular DNA damage caused by reactive oxygen species is repaired by the base excision
repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic …
repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic …