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 …

[HTML][HTML] Biological and therapeutic impact of intratumor heterogeneity in cancer evolution

N McGranahan, C Swanton - Cancer cell, 2015 - cell.com
Precision medicine requires an understanding of cancer genes and mutational processes,
as well as an appreciation of the extent to which these are found heterogeneously in cancer …

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 …

Maftools: efficient and comprehensive analysis of somatic variants in cancer

A Mayakonda, DC Lin, Y Assenov, C Plass… - Genome …, 2018 - genome.cshlp.org
Numerous large-scale genomic studies of matched tumor-normal samples have established
the somatic landscapes of most cancer types. However, the downstream analysis of data …

Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor

SMA Islam, M Díaz-Gay, Y Wu, M Barnes, R Vangara… - Cell genomics, 2022 - cell.com
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

F Blokzijl, R Janssen, R Van Boxtel, E Cuppen - Genome medicine, 2018 - Springer
Background Base substitution catalogues represent historical records of mutational
processes that have been active in a cell. Such processes can be distinguished by various …

Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia

AWT Ng, SL Poon, MN Huang, JQ Lim, A Boot… - Science translational …, 2017 - science.org
Many traditional pharmacopeias include Aristolochia and related plants, which contain
nephrotoxins and mutagens in the form of aristolochic acids and similar compounds …

Computational analysis of cancer genome sequencing data

I Cortés-Ciriano, DC Gulhan, JJK Lee… - Nature Reviews …, 2022 - nature.com
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …

Mutational landscape of intrahepatic cholangiocarcinoma

S Zou, J Li, H Zhou, C Frech, X Jiang, JSC Chu… - Nature …, 2014 - nature.com
Intrahepatic cholangiocarcinoma (ICC) is a fatal primary liver cancer (PLC) that affects 5–
10% of all PLCs. Here we sequence tumour and matching control sample pairs of a large …

Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis

E Letouzé, J Shinde, V Renault, G Couchy… - Nature …, 2017 - nature.com
Genomic alterations driving tumorigenesis result from the interaction of environmental
exposures and endogenous cellular processes. With a diversity of risk factors, liver cancer is …