Mutational signatures: emerging concepts, caveats and clinical applications

G Koh, A Degasperi, X Zou, S Momen… - Nature Reviews …, 2021 - nature.com
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 …

Aristolochic acid-associated cancers: a public health risk in need of global action

S Das, S Thakur, M Korenjak, VS Sidorenko… - Nature Reviews …, 2022 - nature.com
Aristolochic acids (AAs) are a group of naturally occurring compounds present in many plant
species of the Aristolochiaceae family. Exposure to AA is a significant risk factor for severe …

Signatures of copy number alterations in human cancer

CD Steele, A Abbasi, SMA Islam, AL Bowes… - Nature, 2022 - nature.com
Gains and losses of DNA are prevalent in cancer and emerge as a consequence of inter-
related processes of replication stress, mitotic errors, spindle multipolarity and breakage …

Mutations in BRCA1 and BRCA2 differentially affect the tumor microenvironment and response to checkpoint blockade immunotherapy

RM Samstein, C Krishna, X Ma, X Pei, KW Lee… - Nature Cancer, 2020 - nature.com
Immune checkpoint blockade (ICB) has improved outcomes for patients with advanced
cancer, but the determinants of response remain poorly understood. Here we report …

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 …

Therapeutic and prognostic insights from the analysis of cancer mutational signatures

SW Brady, AM Gout, J Zhang - Trends in Genetics, 2022 - cell.com
The somatic mutations in each cancer genome are caused by multiple mutational
processes, each of which leaves a characteristic imprint (or 'signature'), potentially caused …

The mutational signatures of formalin fixation on the human genome

Q Guo, E Lakatos, IA Bakir, K Curtius… - Nature …, 2022 - nature.com
Clinical archives of patient material near-exclusively consist of formalin-fixed and paraffin-
embedded (FFPE) blocks. The ability to precisely characterise mutational signatures from …

[HTML][HTML] APOBEC-mediated mutagenesis is a favorable predictor of prognosis and immunotherapy for bladder cancer patients: evidence from pan-cancer analysis and …

R Shi, X Wang, Y Wu, B Xu, T Zhao, C Trapp… - Theranostics, 2022 - ncbi.nlm.nih.gov
Background: The APOBEC (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-
like) family-mediated mutagenesis is widespread in human cancers. However, our …

Comprehensive investigation of the mutagenic potential of six pesticides classified by IARC as probably carcinogenic to humans

R Martinek, R Lózsa, Á Póti, E Németh, G Várady… - Chemosphere, 2024 - Elsevier
Pesticides are significant environmental pollutants, and many of them possess mutagenic
potential, which is closely linked to carcinogenesis. Here we tested the mutagenicity of all six …

The cytidine deaminase APOBEC3G contributes to cancer mutagenesis and clonal evolution in bladder cancer

W Liu, KP Newhall, F Khani, LM Barlow, D Nguyen… - Cancer Research, 2023 - AACR
Mutagenic processes leave distinct signatures in cancer genomes. The mutational
signatures attributed to APOBEC3 cytidine deaminases are pervasive in human cancers …