The repertoire of mutational signatures in human cancer

Pan-cancer analysis of whole genomes

(2020)   NATURE

The evolutionary history of 2,658 cancers

(2020) Moritz Gerstung et al.   NATURE

Patterns of somatic structural variation in human cancer genomes

(2020) Yilong Li et al.   NATURE

Integrated structural variation and point mutation signatures in cancer genomes using correlated topic models

(2019) Tyler Funnell et al.   PLoS Computational Biology

Experimental and pan-cancer genome analyses reveal widespread contribution of acrylamide exposure to carcinogenesis in humans

(2019) Maria Zhivagui et al.   GENOME RESEARCH

A Compendium of Mutational Signatures of Environmental Agents

(2019) Jill E. Kucab et al.   CELL

In-depth characterization of the cisplatin mutational signature in human cell lines and in esophageal and liver tumors

(2018) Arnoud Boot et al.   GENOME RESEARCH

Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair

(2018) N. J. Haradhvala et al.   Nature Communications

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

(2018) Francis Blokzijl et al.   Genome Medicine

Alcohol and endogenous aldehydes damage chromosomes and mutate stem cells

(2018) Juan I. Garaycoechea et al.   NATURE

Genome-scale mutational signatures of aflatoxin in cells, mice, and human tumors

(2017) Mi Ni Huang et al.   GENOME RESEARCH

Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas

(2017) Camilla Pilati et al.   JOURNAL OF PATHOLOGY

Whole-genome landscapes of major melanoma subtypes

(2017) Nicholas K. Hayward et al.   NATURE

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

(2017) Paz Polak et al.   NATURE GENETICS

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

(2017) Jarno Drost et al.   SCIENCE

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

(2017) Alessandra Viel et al.   EBioMedicine

signeR: an empirical Bayesian approach to mutational signature discovery

(2016) Rafael A. Rosales et al.   BIOINFORMATICS

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

(2016) Maude Ardin et al.   BMC BIOINFORMATICS

Understanding mutagenesis through delineation of mutational signatures in human cancer

(2016) Mia Petljak et al.   CARCINOGENESIS

Hypermutation and unique mutational signatures of occupational cholangiocarcinoma in printing workers exposed to haloalkanes

(2016) Sachiyo Mimaki et al.   CARCINOGENESIS

Mutational Strand Asymmetries in Cancer Genomes Reveal Mechanisms of DNA Damage and Repair

(2016) Nicholas J. Haradhvala et al.   CELL

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

(2016) Serena Nik-Zainal et al.   NATURE

Tissue-specific mutation accumulation in human adult stem cells during life

(2016) Francis Blokzijl et al.   NATURE

Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors

(2016) Jaegil Kim et al.   NATURE GENETICS

Loss of BRCA1 or BRCA2 markedly increases the rate of base substitution mutagenesis and has distinct effects on genomic deletions

(2016) J Zámborszky et al.   ONCOGENE

Repair Pathway Choices and Consequences at the Double-Strand Break

(2016) Raphael Ceccaldi et al.   TRENDS IN CELL BIOLOGY

The topography of mutational processes in breast cancer genomes

(2016) Sandro Morganella et al.   Nature Communications

Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents

(2016) Jane Merlevede et al.   Nature Communications

The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts

(2016) Natalie Saini et al.   PLoS Genetics

An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers

(2015) Kin Chan et al.   NATURE GENETICS

Clock-like mutational processes in human somatic cells

(2015) Ludmil B Alexandrov et al.   NATURE GENETICS

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets

(2015) Kornelius Schulze et al.   NATURE GENETICS

Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution

(2015) S. Kasar et al.   Nature Communications

A Simple Model-Based Approach to Inferring and Visualizing Cancer Mutation Signatures

(2015) Yuichi Shiraishi et al.   PLoS Genetics

Mutational signatures: the patterns of somatic mutations hidden in cancer genomes

(2014) Ludmil B Alexandrov et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

C. eleganswhole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency

(2014) Bettina Meier et al.   GENOME RESEARCH

UV Signature Mutations

(2014) Douglas E. Brash   PHOTOCHEMISTRY AND PHOTOBIOLOGY

Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

(2013) Jian-Min Chen et al.   HUMAN MUTATION

Mutational heterogeneity in cancer and the search for new cancer-associated genes

(2013) Michael S. Lawrence et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Genome-Wide Mutational Signatures of Aristolochic Acid and Its Application as a Screening Tool

(2013) S. L. Poon et al.   Science Translational Medicine

Deciphering Signatures of Mutational Processes Operative in Human Cancer

(2013) Ludmil B. Alexandrov et al.   Cell Reports

EMu: probabilistic inference of mutational processes and their localization in the cancer genome

(2013) Andrej Fischer et al.   GENOME BIOLOGY

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability

(2012) Y. Drier et al.   GENOME RESEARCH

Automatic Relevance Determination in Nonnegative Matrix Factorization with the /spl beta/-Divergence

(2012) V. Y. F. Tan et al.   IEEE TRANSACTIONS ON PATTERN ANALYSIS AND MACHINE INTELLIGENCE

Clustered Mutations in Yeast and in Human Cancers Can Arise from Damaged Long Single-Strand DNA Regions

(2012) Steven A. Roberts et al.   MOLECULAR CELL

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Precision cosmology with the cosmic microwave background

(2009) Jean-Francois Cardoso   IEEE SIGNAL PROCESSING MAGAZINE

The cancer genome

(2009) Michael R. Stratton et al.   NATURE