Understanding mutagenesis through delineation of mutational signatures in human cancer

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

(2016) Nicholas J. Haradhvala et al.   CELL

Single-cell genome sequencing: current state of the science

(2016) Charles Gawad et al.   NATURE REVIEWS GENETICS

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

(2016) Jane Merlevede et al.   Nature Communications

APOBEC3A and APOBEC3B Preferentially Deaminate the Lagging Strand Template during DNA Replication

(2016) James I. Hoopes et al.   Cell Reports

Exploring the implications of distinct mutational signatures and mutation rates in aging and cancer

(2016) Edward J. Fox et al.   Genome Medicine

SomaticSignatures: inferring mutational signatures from single-nucleotide variants: Fig. 1.

(2015) Julian S. Gehring et al.   BIOINFORMATICS

Aristolochic acid exposure in Romania and implications for renal cell carcinoma

(2015) Robert J Turesky et al.   BRITISH JOURNAL OF CANCER

Analysis of mutational signatures in exomes from B-cell lymphoma cell lines suggest APOBEC3 family members to be involved in the pathogenesis of primary effusion lymphoma

(2015) R Wagener et al.   LEUKEMIA

The genome as a record of environmental exposure

(2015) Serena Nik-Zainal et al.   MUTAGENESIS

Non-coding recurrent mutations in chronic lymphocytic leukaemia

(2015) Xose S. Puente et al.   NATURE

The evolutionary history of lethal metastatic prostate cancer

(2015) Gunes Gundem et al.   NATURE

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

(2015) Kin Chan et al.   NATURE GENETICS

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

(2015) Adam Shlien 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

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma

(2015) Caryn S Ross-Innes et al.   NATURE GENETICS

Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

(2015) Colin S Cooper et al.   NATURE GENETICS

SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair

(2015) N Kanu et al.   ONCOGENE

Understanding the origins of human cancer

(2015) L. B. Alexandrov   SCIENCE

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

A mutational signature in gastric cancer suggests therapeutic strategies

(2015) Ludmil B. Alexandrov et al.   Nature Communications

Tracking the origins and drivers of subclonal metastatic expansion in prostate cancer

(2015) Matthew K.H. Hong et al.   Nature Communications

APOBEC-Induced Cancer Mutations Are Uniquely Enriched in Early-Replicating, Gene-Dense, and Active Chromatin Regions

(2015) Marat D. Kazanov et al.   Cell Reports

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

Renal cell carcinomas of chronic kidney disease patients harbor the mutational signature of carcinogenic aristolochic acid

(2014) Bojan Jelaković et al.   INTERNATIONAL JOURNAL OF CANCER

Genome sequencing of normal cells reveals developmental lineages and mutational processes

(2014) Sam Behjati et al.   NATURE

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

(2014) Serena Nik-Zainal et al.   NATURE GENETICS

RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia

(2014) Elli Papaemmanuil et al.   NATURE GENETICS

Heterogeneity of genomic evolution and mutational profiles in multiple myeloma

(2014) Niccolo Bolli et al.   Nature Communications

An estimation of the number of cells in the human body

(2013) Eva Bianconi et al.   ANNALS OF HUMAN BIOLOGY

APOBEC3 deletion polymorphism is associated with breast cancer risk among women of European ancestry

(2013) D. Xuan et al.   CARCINOGENESIS

Punctuated Evolution of Prostate Cancer Genomes

(2013) Sylvan C. Baca et al.   CELL

Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma

(2013) Z. Kan et al.   GENOME RESEARCH

A Common Deletion in the APOBEC3 Genes and Breast Cancer Risk

(2013) Jirong Long et al.   JNCI-Journal of the National Cancer Institute

Comprehensive molecular characterization of clear cell renal cell carcinoma

(2013)   NATURE

Integrated genomic characterization of endometrial carcinoma

(2013) Gad Getz et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity

(2013) Austin M Dulak et al.   NATURE GENETICS

The genomic landscape of hypodiploid acute lymphoblastic leukemia

(2013) Linda Holmfeldt et al.   NATURE GENETICS

The genetic landscape of high-risk neuroblastoma

(2013) Trevor J Pugh et al.   NATURE GENETICS

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas

(2013)   NATURE GENETICS

Highly Recurrent TERT Promoter Mutations in Human Melanoma

(2013) F. W. Huang et al.   SCIENCE

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

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

Mutational Signature of Aristolochic Acid Exposure as Revealed by Whole-Exome Sequencing

(2013) M. L. Hoang et al.   Science Translational Medicine

Deciphering Signatures of Mutational Processes Operative in Human Cancer

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

DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis

(2013) Benjamin JM Taylor et al.   eLife

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

(2013) Andrej Fischer et al.   GENOME BIOLOGY

Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-Smokers

(2012) Ramaswamy Govindan et al.   CELL

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

A Landscape of Driver Mutations in Melanoma

(2012) Eran Hodis et al.   CELL

Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

(2012) Marcin Imielinski et al.   CELL

The Life History of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

The transcriptional landscape and mutational profile of lung adenocarcinoma

(2012) J.-S. Seo et al.   GENOME RESEARCH

The clonal and mutational evolution spectrum of primary triple-negative breast cancers

(2012) Sohrab P. Shah et al.   NATURE

Novel mutations target distinct subgroups of medulloblastoma

(2012) Giles Robinson et al.   NATURE

Dissecting the genomic complexity underlying medulloblastoma

(2012) David T. W. Jones et al.   NATURE

Recurrent R-spondin fusions in colon cancer

(2012) Somasekar Seshagiri et al.   NATURE

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Melanoma genome sequencing reveals frequent PREX2 mutations

(2012) Michael F. Berger et al.   NATURE

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

(2012) Jinghui Zhang et al.   NATURE

The mutational landscape of lethal castration-resistant prostate cancer

(2012) Catherine S. Grasso et al.   NATURE

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

(2012) Li Ding et al.   NATURE

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer

(2012) Christopher E Barbieri et al.   NATURE GENETICS

Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer

(2012) Charles M Rudin et al.   NATURE GENETICS

BAP1 loss defines a new class of renal cell carcinoma

(2012) Samuel Peña-Llopis et al.   NATURE GENETICS

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators

(2012) Akihiro Fujimoto et al.   NATURE GENETICS

The genetic landscape of mutations in Burkitt lymphoma

(2012) Cassandra Love et al.   NATURE GENETICS

Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

(2012) Mark Sausen et al.   NATURE GENETICS

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

(2012) Zhi Jiang Zang et al.   NATURE GENETICS

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

(2012) Martin Peifer et al.   NATURE GENETICS

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

(2012) Kim De Keersmaecker et al.   NATURE GENETICS

Whole-genome reconstruction and mutational signatures in gastric cancer

(2012) Niranjan Nagarajan et al.   GENOME BIOLOGY

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma

(2011) Ryan D. Morin et al.   NATURE

Initial genome sequencing and analysis of multiple myeloma

(2011) Michael A. Chapman et al.   NATURE

The genomic complexity of primary human prostate cancer

(2011) Michael F. Berger et al.   NATURE

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

(2011) Xose S. Puente et al.   NATURE

Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma

(2011) Guangwu Guo et al.   NATURE GENETICS

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing

(2011) Mitchell S Stark et al.   NATURE GENETICS

Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer

(2011) Kai Wang et al.   NATURE GENETICS

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

(2011) Víctor Quesada et al.   NATURE GENETICS

Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways

(2011) J. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exploring the Genomes of Cancer Cells: Progress and Promise

(2011) M. R. Stratton   SCIENCE

Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1

(2011) N. Agrawal et al.   SCIENCE

The Mutational Landscape of Head and Neck Squamous Cell Carcinoma

(2011) N. Stransky et al.   SCIENCE

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

International network of cancer genome projects

(2010) Thomas J. Hudson (Chairperson) et al.   NATURE

Frequent Mutations of Chromatin Remodeling Gene ARID1A in Ovarian Clear Cell Carcinoma

(2010) Siân Jones et al.   SCIENCE

A comprehensive catalogue of somatic mutations from a human cancer genome

(2009) Erin D. Pleasance et al.   NATURE

The cancer genome

(2009) Michael R. Stratton et al.   NATURE

DNA Damage, Aging, and Cancer

(2009) Jan H.J. Hoeijmakers   NEW ENGLAND JOURNAL OF MEDICINE

Mutation patterns in cancer genomes

(2009) A. F. Rubin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Somatic mutations affect key pathways in lung adenocarcinoma

(2008) Li Ding et al.   NATURE

An Integrated Genomic Analysis of Human Glioblastoma Multiforme

(2008) D. W. Parsons et al.   SCIENCE

The impact of next-generation sequencing technology on genetics

(2008) Elaine R. Mardis   TRENDS IN GENETICS