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 …

Targeting the DNA damage response in immuno-oncology: developments and opportunities

RM Chabanon, M Rouanne, CJ Lord, JC Soria… - Nature Reviews …, 2021 - nature.com
Immunotherapy has revolutionized cancer treatment and substantially improved patient
outcome with regard to multiple tumour types. However, most patients still do not benefit …

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 …

The repertoire of mutational signatures in human cancer

LB Alexandrov, J Kim, NJ Haradhvala, MN Huang… - Nature, 2020 - nature.com
Somatic mutations in cancer genomes are caused by multiple mutational processes, each of
which generates a characteristic mutational signature. Here, as part of the Pan-Cancer …

The landscape of somatic mutation in normal colorectal epithelial cells

H Lee-Six, S Olafsson, P Ellis, RJ Osborne… - Nature, 2019 - nature.com
The colorectal adenoma–carcinoma sequence has provided a paradigmatic framework for
understanding the successive somatic genetic changes and consequent clonal expansions …

Ewing sarcoma—diagnosis, treatment, clinical challenges and future perspectives

SK Zöllner, JF Amatruda, S Bauer, S Collaud… - Journal of clinical …, 2021 - mdpi.com
Ewing sarcoma, a highly aggressive bone and soft-tissue cancer, is considered a prime
example of the paradigms of a translocation-positive sarcoma: a genetically rather simple …

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 …

Reactive oxygen species: Role in carcinogenesis, cancer cell signaling and tumor progression

FL Sarmiento-Salinas, A Perez-Gonzalez… - Life Sciences, 2021 - Elsevier
Cancer is one of the major causes of death in the world and its global burden is expected to
continue increasing. In several types of cancers, reactive oxygen species (ROS) have been …

Characterizing mutational signatures in human cancer cell lines reveals episodic APOBEC mutagenesis

M Petljak, LB Alexandrov, JS Brammeld, S Price… - Cell, 2019 - cell.com
Multiple signatures of somatic mutations have been identified in cancer genomes. Exome
sequences of 1,001 human cancer cell lines and 577 xenografts revealed most common …

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer

J Drost, R Van Boxtel, F Blokzijl, T Mizutani, N Sasaki… - Science, 2017 - science.org
Mutational processes underlie cancer initiation and progression. Signatures of these
processes in cancer genomes may explain cancer etiology and could hold diagnostic and …