Recurrent somatic mutations reveal new insights into consequences of mutagenic processes in cancer

MD Stobbe, GA Thun… - PLoS computational …, 2019 - journals.plos.org
The sheer size of the human genome makes it improbable that identical somatic mutations
at the exact same position are observed in multiple tumours solely by chance. The scarcity of …

Mechanisms underlying mutational signatures in human cancers

T Helleday, S Eshtad, S Nik-Zainal - Nature reviews genetics, 2014 - nature.com
The collective somatic mutations observed in a cancer are the outcome of multiple
mutagenic processes that have been operative over the lifetime of a patient. Each process …

Exploring background mutational processes to decipher cancer genetic heterogeneity

A Goncearenco, SL Rager, M Li, QX Sang… - Nucleic acids …, 2017 - academic.oup.com
Much remains unknown about the progression and heterogeneity of mutational processes in
different cancers and their diagnostic and clinical potential. A growing body of evidence …

Emerging patterns of somatic mutations in cancer

IR Watson, K Takahashi, PA Futreal, L Chin - Nature Reviews Genetics, 2013 - nature.com
Recent advances in technological tools for massively parallel, high-throughput sequencing
of DNA have enabled the comprehensive characterization of somatic mutations in a large …

Mutational signatures: experimental design and analytical framework

G Koh, X Zou, S Nik-Zainal - Genome biology, 2020 - Springer
Mutational signatures provide a powerful alternative for understanding the pathophysiology
of cancer. Currently, experimental efforts aimed at validating and understanding the …

Base changes in tumour DNA have the power to reveal the causes and evolution of cancer

M Hollstein, LB Alexandrov, CP Wild, M Ardin, J Zavadil - Oncogene, 2017 - nature.com
Next-generation sequencing (NGS) technology has demonstrated that the cancer genomes
are peppered with mutations. Although most somatic tumour mutations are unlikely to have …

Significance and limitations of the use of next-generation sequencing technologies for detecting mutational signatures

A Abbasi, LB Alexandrov - DNA repair, 2021 - Elsevier
Next generation sequencing technologies (NGS) have been critical in characterizing the
genomic landscape and untangling the genetic heterogeneity of human cancer. Since its …

[HTML][HTML] Design and analysis issues in genome-wide somatic mutation studies of cancer

G Parmigiani, S Boca, J Lin, KW Kinzler, V Velculescu… - Genomics, 2009 - Elsevier
The availability of the human genome sequence and progress in sequencing and
bioinformatic technologies have enabled genome-wide investigation of somatic mutations in …

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 …

MutSpec: a Galaxy toolbox for streamlined analyses of somatic mutation spectra in human and mouse cancer genomes

M Ardin, V Cahais, X Castells, L Bouaoun, G Byrnes… - BMC …, 2016 - Springer
Background The nature of somatic mutations observed in human tumors at single gene or
genome-wide levels can reveal information on past carcinogenic exposures and mutational …