Leveraging the replication stress response to optimize cancer therapy

E Cybulla, A Vindigni - Nature Reviews Cancer, 2023 - nature.com
High-fidelity DNA replication is critical for the faithful transmission of genetic information to
daughter cells. Following genotoxic stress, specialized DNA damage tolerance pathways …

Cancer driver mutations: predictions and reality

D Ostroverkhova, TM Przytycka… - Trends in Molecular …, 2023 - cell.com
Cancer cells accumulate many genetic alterations throughout their lifetime, but only a few of
them drive cancer progression, termed driver mutations. Driver mutations may vary between …

DNA damage: from threat to treatment

A Carusillo, C Mussolino - Cells, 2020 - mdpi.com
DNA is the source of genetic information, and preserving its integrity is essential in order to
sustain life. The genome is continuously threatened by different types of DNA lesions, such …

The origins and genetic interactions of KRAS mutations are allele- and tissue-specific

JH Cook, GEM Melloni, DC Gulhan, PJ Park… - Nature …, 2021 - nature.com
Mutational activation of KRAS promotes the initiation and progression of cancers, especially
in the colorectum, pancreas, lung, and blood plasma, with varying prevalence of specific …

Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line

R Hinch, P Donnelly, AG Hinch - Science, 2023 - science.org
Meiotic recombination commences with hundreds of programmed DNA breaks; however, the
degree to which they are accurately repaired remains poorly understood. We report that …

DNA mismatch repair promotes APOBEC3-mediated diffuse hypermutation in human cancers

D Mas-Ponte, F Supek - Nature genetics, 2020 - nature.com
Certain mutagens, including the APOBEC3 (A3) cytosine deaminase enzymes, can create
multiple genetic changes in a single event. Activity of A3s results in striking 'mutation …

Scales and mechanisms of somatic mutation rate variation across the human genome

F Supek, B Lehner - DNA repair, 2019 - Elsevier
Cancer genome sequencing has revealed that somatic mutation rates vary substantially
across the human genome and at scales from megabase-sized domains to individual …

Translesion polymerase eta both facilitates DNA replication and promotes increased human genetic variation at common fragile sites

S Twayana, A Bacolla… - Proceedings of the …, 2021 - National Acad Sciences
Common fragile sites (CFSs) are difficult-to-replicate genomic regions that form gaps and
breaks on metaphase chromosomes under replication stress. They are hotspots for …

Unravelling roles of error-prone DNA polymerases in sha** cancer genomes

C Vaziri, IB Rogozin, Q Gu, D Wu, TA Day - Oncogene, 2021 - nature.com
Mutagenesis is a key hallmark and enabling characteristic of cancer cells, yet the diverse
underlying mutagenic mechanisms that shape cancer genomes are not understood. This …

Widespread mutagenesis and chromosomal instability shape somatic genomes in systemic sclerosis

S Vijayraghavan, T Blouin, J McCollum… - Nature …, 2024 - nature.com
Systemic sclerosis is a connective tissue disorder characterized by excessive fibrosis that
primarily affects women, and can present as a multisystem pathology. Roughly 4-22% of …