Base changes in tumour DNA have the power to reveal the causes and evolution of cancer
Abstract
Next-generation sequencing (NGS) technology has demonstrated that the cancer genomes are peppered with mutations. Although most somatic tumour mutations are unlikely to have any role in the cancer process per se, the spectra of DNA sequence changes in tumour mutation catalogues have the potential to identify the mutagens, and to reveal the mutagenic processes responsible for human cancer. Very recently, a novel approach for data mining of the vast compilations of tumour NGS data succeeded in separating and precisely defining at least 30 distinct patterns of sequence change hidden in mutation databases. At least half of these mutational signatures can be readily assigned to known human carcinogenic exposures or endogenous mechanisms of mutagenesis. A quantum leap in our knowledge of mutagenesis in human cancers has resulted, stimulating a flurry of research activity. We trace here the major findings leading first to the hypothesis that carcinogenic insults leave characteristic imprints on the DNA sequence of tumours, and culminating in empirical evidence from NGS data that well-defined carcinogen mutational signatures are indeed present in tumour genomic DNA from a variety of cancer types. The notion that tumour DNAs can divulge environmental sources of mutation is now a well-accepted fact. This approach tomore »
- Authors:
-
[3]
- World Health Organization, Lyon (France); Univ. of Leeds, Leeds (United Kingdom)
- Los Alamos National Lab. (LANL), Los Alamos, NM (United States)
- World Health Organization, Lyon (France)
- Publication Date:
- Research Org.:
- Los Alamos National Laboratory (LANL), Los Alamos, NM (United States)
- Sponsoring Org.:
- USDOE
- OSTI Identifier:
- 1258471
- Report Number(s):
- LA-UR-16-20127
Journal ID: ISSN 0950-9232; onc2016192
- Grant/Contract Number:
- AC52-06NA25396
- Resource Type:
- Accepted Manuscript
- Journal Name:
- Oncogene
- Additional Journal Information:
- Journal Name: Oncogene; Journal ID: ISSN 0950-9232
- Publisher:
- Nature Publishing Group
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 59 BASIC BIOLOGICAL SCIENCES; Biological Science
Citation Formats
Hollstein, M., Alexandrov, L. B., Wild, C. P., Ardin, M., and Zavadil, J. Base changes in tumour DNA have the power to reveal the causes and evolution of cancer. United States: N. p., 2016.
Web. doi:10.1038/onc.2016.192.
Hollstein, M., Alexandrov, L. B., Wild, C. P., Ardin, M., & Zavadil, J. Base changes in tumour DNA have the power to reveal the causes and evolution of cancer. United States. https://doi.org/10.1038/onc.2016.192
Hollstein, M., Alexandrov, L. B., Wild, C. P., Ardin, M., and Zavadil, J. Mon .
"Base changes in tumour DNA have the power to reveal the causes and evolution of cancer". United States. https://doi.org/10.1038/onc.2016.192. https://www.osti.gov/servlets/purl/1258471.
@article{osti_1258471,
title = {Base changes in tumour DNA have the power to reveal the causes and evolution of cancer},
author = {Hollstein, M. and Alexandrov, L. B. and Wild, C. P. and Ardin, M. and Zavadil, J.},
abstractNote = {Next-generation sequencing (NGS) technology has demonstrated that the cancer genomes are peppered with mutations. Although most somatic tumour mutations are unlikely to have any role in the cancer process per se, the spectra of DNA sequence changes in tumour mutation catalogues have the potential to identify the mutagens, and to reveal the mutagenic processes responsible for human cancer. Very recently, a novel approach for data mining of the vast compilations of tumour NGS data succeeded in separating and precisely defining at least 30 distinct patterns of sequence change hidden in mutation databases. At least half of these mutational signatures can be readily assigned to known human carcinogenic exposures or endogenous mechanisms of mutagenesis. A quantum leap in our knowledge of mutagenesis in human cancers has resulted, stimulating a flurry of research activity. We trace here the major findings leading first to the hypothesis that carcinogenic insults leave characteristic imprints on the DNA sequence of tumours, and culminating in empirical evidence from NGS data that well-defined carcinogen mutational signatures are indeed present in tumour genomic DNA from a variety of cancer types. The notion that tumour DNAs can divulge environmental sources of mutation is now a well-accepted fact. This approach to cancer aetiology has also incriminated various endogenous, enzyme-driven processes that increase the somatic mutation load in sporadic cancers. The tasks now confronting the field of molecular epidemiology are to assign mutagenic processes to orphan and newly discovered tumour mutation patterns, and to determine whether avoidable cancer risk factors influence signatures produced by endogenous enzymatic mechanisms. As a result, innovative research with experimental models and exploitation of the geographical heterogeneity in cancer incidence can address these challenges.},
doi = {10.1038/onc.2016.192},
journal = {Oncogene},
number = ,
volume = ,
place = {United States},
year = {Mon Jun 06 00:00:00 EDT 2016},
month = {Mon Jun 06 00:00:00 EDT 2016}
}
Free Publicly Available Full Text
Publisher's Version of Record
Other availability
Search WorldCat to find libraries that may hold this journal
Cited by: 40 works
Citation information provided by
Web of Science
Web of Science
Save to My Library
You must Sign In or Create an Account in order to save documents to your library.
Works referenced in this record:
Whole-Genome Profiling of Mutagenesis in Caenorhabditis elegans
journal, May 2010
- Flibotte, Stephane; Edgley, Mark L.; Chaudhry, Iasha
- Genetics, Vol. 185, Issue 2
Aristolochic acid and the etiology of endemic (Balkan) nephropathy
journal, July 2007
- Grollman, A. P.; Shibutani, S.; Moriya, M.
- Proceedings of the National Academy of Sciences, Vol. 104, Issue 29
Carcinogens induce targeted mutations in Escherichia coli
journal, November 1982
- Miller, Jeffrey H.
- Cell, Vol. 31, Issue 1
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity
journal, March 2013
- Dulak, Austin M.; Stojanov, Petar; Peng, Shouyong
- Nature Genetics, Vol. 45, Issue 5
Clock-like mutational processes in human somatic cells
journal, November 2015
- Alexandrov, Ludmil B.; Jones, Philip H.; Wedge, David C.
- Nature Genetics, Vol. 47, Issue 12
Human tumor p53 mutations are selected for in mouse embryonic fibroblasts harboring a humanized p53 gene
journal, February 2004
- Liu, Z.; Hergenhahn, M.; Schmeiser, H. H.
- Proceedings of the National Academy of Sciences, Vol. 101, Issue 9
Substantial contribution of extrinsic risk factors to cancer development
journal, December 2015
- Wu, Song; Powers, Scott; Zhu, Wei
- Nature, Vol. 529, Issue 7584
High burden and pervasive positive selection of somatic mutations in normal human skin
journal, May 2015
- Martincorena, I.; Roshan, A.; Gerstung, M.
- Science, Vol. 348, Issue 6237
C. elegans whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency
journal, July 2014
- Meier, Bettina; Cooke, Susanna L.; Weiss, Joerg
- Genome Research, Vol. 24, Issue 10
Signatures of mutational processes in human cancer
journal, August 2013
- Alexandrov, Ludmil B.; Nik-Zainal, Serena; Wedge, David C.
- Nature, Vol. 500, Issue 7463
The Age Distribution of Cancer and a Multi-stage Theory of Carcinogenesis
journal, March 1954
- Armitage, P.; Doll, R.
- British Journal of Cancer, Vol. 8, Issue 1
A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma.
journal, November 1991
- Brash, D. E.; Rudolph, J. A.; Simon, J. A.
- Proceedings of the National Academy of Sciences, Vol. 88, Issue 22
p53 mutations in human cancers
journal, July 1991
- Hollstein, M.; Sidransky, D.; Vogelstein, B.
- Science, Vol. 253, Issue 5015
AID/APOBEC deaminases and cancer
journal, April 2015
- Rebhandl, Stefan; Huemer, Michael; Greil, Richard
- Oncoscience, Vol. 2
Mutant p53 Gain-of-Function in Cancer
journal, December 2009
- Oren, M.; Rotter, V.
- Cold Spring Harbor Perspectives in Biology, Vol. 2, Issue 2
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
journal, February 2015
- Shlien, Adam; Campbell, Brittany B.; de Borja, Richard
- Nature Genetics, Vol. 47, Issue 3
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes
journal, November 2014
- Totoki, Yasushi; Tatsuno, Kenji; Covington, Kyle R.
- Nature Genetics, Vol. 46, Issue 12
EMu: probabilistic inference of mutational processes and their localization in the cancer genome
journal, January 2013
- Fischer, Andrej; Illingworth, Christopher JR; Campbell, Peter J.
- Genome Biology, Vol. 14, Issue 4
AID expression in B-cell lymphomas causes accumulation of genomic uracil and a distinct AID mutational signature
journal, January 2015
- Pettersen, Henrik Sahlin; Galashevskaya, Anastasia; Doseth, Berit
- DNA Repair, Vol. 25
Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer
journal, April 2014
- Nik-Zainal, Serena; Wedge, David C.; Alexandrov, Ludmil B.
- Nature Genetics, Vol. 46, Issue 5
High-throughput sequencing in mutation detection: A new generation of genotoxicity tests?
journal, June 2015
- Maslov, Alexander Y.; Quispe-Tintaya, Wilber; Gorbacheva, Tatyana
- Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 776
Mutational Signature of Aristolochic Acid Exposure as Revealed by Whole-Exome Sequencing
journal, August 2013
- Hoang, M. L.; Chen, C. -H.; Sidorenko, V. S.
- Science Translational Medicine, Vol. 5, Issue 197
Genomic landscape of carcinogen-induced and genetically induced mouse skin squamous cell carcinoma
journal, July 2015
- Nassar, Dany; Latil, Mathilde; Boeckx, Bram
- Nature Medicine, Vol. 21, Issue 8
Dissecting genetic and environmental mutation signatures with model organisms
journal, August 2015
- Segovia, Romulo; Tam, Annie S.; Stirling, Peter C.
- Trends in Genetics, Vol. 31, Issue 8
Genome-Wide Mutational Signatures of Aristolochic Acid and Its Application as a Screening Tool
journal, August 2013
- Poon, S. L.; Pang, S. -T.; McPherson, J. R.
- Science Translational Medicine, Vol. 5, Issue 197
Next-Generation Sequencing of RNA and DNA Isolated from Paired Fresh-Frozen and Formalin-Fixed Paraffin-Embedded Samples of Human Cancer and Normal Tissue
journal, May 2014
- Hedegaard, Jakob; Thorsen, Kasper; Lund, Mette Katrine
- PLoS ONE, Vol. 9, Issue 5
Impact of functional germline variants and a deletion polymorphism in APOBEC3A and APOBEC3B on breast cancer risk and survival in a Swedish study population
journal, August 2015
- Göhler, Stella; Da Silva Filho, Miguel Inacio; Johansson, Robert
- Journal of Cancer Research and Clinical Oncology, Vol. 142, Issue 1
Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012: Globocan 2012
journal, October 2014
- Ferlay, Jacques; Soerjomataram, Isabelle; Dikshit, Rajesh
- International Journal of Cancer, Vol. 136, Issue 5
Squamous Cell Carcinoma of the Oral Tongue in Young Non-Smokers Is Genomically Similar to Tumors in Older Smokers
journal, May 2014
- Pickering, C. R.; Zhang, J.; Neskey, D. M.
- Clinical Cancer Research, Vol. 20, Issue 14
APOBEC-Mediated Cytosine Deamination Links PIK3CA Helical Domain Mutations to Human Papillomavirus-Driven Tumor Development
journal, June 2014
- Henderson, Stephen; Chakravarthy, Ankur; Su, Xiaoping
- Cell Reports, Vol. 7, Issue 6
Deciphering Signatures of Mutational Processes Operative in Human Cancer
journal, January 2013
- Alexandrov, Ludmil B.; Nik-Zainal, Serena; Wedge, David C.
- Cell Reports, Vol. 3, Issue 1
RNA Editing Enzyme APOBEC1 and Some of Its Homologs Can Act as DNA Mutators
journal, November 2002
- Harris, Reuben S.; Petersen-Mahrt, Svend K.; Neuberger, Michael S.
- Molecular Cell, Vol. 10, Issue 5, p. 1247-1253
Hallmarks of Cancer: The Next Generation
journal, March 2011
- Hanahan, Douglas; Weinberg, Robert A.
- Cell, Vol. 144, Issue 5
Mutational Processes Molding the Genomes of 21 Breast Cancers
journal, May 2012
- Nik-Zainal, Serena; Alexandrov, Ludmil B.; Wedge, David C.
- Cell, Vol. 149, Issue 5
Radical causes of cancer
journal, April 2003
- Hussain, S. Perwez; Hofseth, Lorne J.; Harris, Curtis C.
- Nature Reviews Cancer, Vol. 3, Issue 4
Analysis of TP53 mutation spectra reveals the fingerprint of the potent environmental carcinogen, aristolochic acid
journal, July 2013
- Hollstein, M.; Moriya, M.; Grollman, A. P.
- Mutation Research/Reviews in Mutation Research, Vol. 753, Issue 1
Cancer Genome Landscapes
journal, March 2013
- Vogelstein, B.; Papadopoulos, N.; Velculescu, V. E.
- Science, Vol. 339, Issue 6127
APOBEC3A Functions as a Restriction Factor of Human Papillomavirus
journal, October 2014
- Warren, Cody J.; Xu, Tao; Guo, Kejun
- Journal of Virology, Vol. 89, Issue 1
Renal cell carcinomas of chronic kidney disease patients harbor the mutational signature of carcinogenic aristolochic acid: Aristolochic acid-associated renal cell carcinomas
journal, December 2014
- Jelaković, Bojan; Castells, Xavier; Tomić, Karla
- International Journal of Cancer, Vol. 136, Issue 12
The mutational landscapes of genetic and chemical models of Kras-driven lung cancer
journal, November 2014
- Westcott, Peter M. K.; Halliwill, Kyle D.; To, Minh D.
- Nature, Vol. 517, Issue 7535
Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma
journal, July 2015
- Ross-Innes, Caryn S.; Becq, Jennifer; Warren, Andrew
- Nature Genetics, Vol. 47, Issue 9
Evidence for APOBEC3B mutagenesis in multiple human cancers
journal, July 2013
- Burns, Michael B.; Temiz, Nuri A.; Harris, Reuben S.
- Nature Genetics, Vol. 45, Issue 9
Selective G to T mutations of p53 gene in hepatocellular carcinoma from southern Africa
journal, April 1991
- Bressac, Brigitte; Kew, Michael; Wands, Jack
- Nature, Vol. 350, Issue 6317
Learning the parts of objects by non-negative matrix factorization
journal, October 1999
- Lee, Daniel D.; Seung, H. Sebastian
- Nature, Vol. 401, Issue 6755
Papillomaviruses in the causation of human cancers — a brief historical account
journal, February 2009
- zur Hausen, Harald
- Virology, Vol. 384, Issue 2
Lessons from the Cancer Genome
journal, March 2013
- Garraway, Levi A.; Lander, Eric S.
- Cell, Vol. 153, Issue 1
Mutational hot spot in the p53 gene in human hepatocellular carcinomas
journal, April 1991
- Hsu, I. C.; Metcalf, R. A.; Sun, T.
- Nature, Vol. 350, Issue 6317
Variation in genomic landscape of clear cell renal cell carcinoma across Europe
journal, October 2014
- Scelo, Ghislaine; Riazalhosseini, Yasser; Greger, Liliana
- Nature Communications, Vol. 5, Issue 1
Mutational landscape of intrahepatic cholangiocarcinoma
journal, December 2014
- Zou, Shanshan; Li, Jiarui; Zhou, Huabang
- Nature Communications, Vol. 5, Issue 1
Exploring the Genomes of Cancer Cells: Progress and Promise
journal, March 2011
- Stratton, M. R.
- Science, Vol. 331, Issue 6024
Preferential Formation of Benzo[a]pyrene Adducts at Lung Cancer Mutational Hotspots in P53
journal, October 1996
- Denissenko, M. F.; Pao, A.; Tang, M. -s.
- Science, Vol. 274, Issue 5286
Mutation signatures implicate aristolochic acid in bladder cancer development
journal, April 2015
- Poon, Song Ling; Huang, Mi Ni; Choo, Yang
- Genome Medicine, Vol. 7, Issue 1
A mutational signature in gastric cancer suggests therapeutic strategies
journal, October 2015
- Alexandrov, Ludmil B.; Nik-Zainal, Serena; Siu, Hoi Cheong
- Nature Communications, Vol. 6, Issue 1
The cancer genome
journal, April 2009
- Stratton, Michael R.; Campbell, Peter J.; Futreal, P. Andrew
- Nature, Vol. 458, Issue 7239
Blinded by the Light: The Growing Complexity of p53
journal, May 2009
- Vousden, Karen H.; Prives, Carol
- Cell, Vol. 137, Issue 3
A Simple Model-Based Approach to Inferring and Visualizing Cancer Mutation Signatures
journal, December 2015
- Shiraishi, Yuichi; Tremmel, Georg; Miyano, Satoru
- PLOS Genetics, Vol. 11, Issue 12
Functions and regulation of the APOBEC family of proteins
journal, May 2012
- Smith, Harold C.; Bennett, Ryan P.; Kizilyer, Ayse
- Seminars in Cell & Developmental Biology, Vol. 23, Issue 3
Endogenous DNA damage and mutation
journal, April 2001
- Marnett, L.
- Trends in Genetics, Vol. 17, Issue 4
Detection of carcinogens as mutagens in the Salmonella/microsome test: assay of 300 chemicals.
journal, December 1975
- McCann, J.; Choi, E.; Yamasaki, E.
- Proceedings of the National Academy of Sciences, Vol. 72, Issue 12
Mutational signatures: the patterns of somatic mutations hidden in cancer genomes
journal, February 2014
- Alexandrov, Ludmil B.; Stratton, Michael R.
- Current Opinion in Genetics & Development, Vol. 24
New approaches to understanding p53 gene tumor mutation spectra
journal, December 1999
- Hollstein, Monica; Hergenhahn, Manfred; Yang, Qin
- Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 431, Issue 2
APOBEC3B is an enzymatic source of mutation in breast cancer
journal, February 2013
- Burns, Michael B.; Lackey, Lela; Carpenter, Michael A.
- Nature, Vol. 494, Issue 7437
Aristolochic acid nephropathy: Harbinger of a global iatrogenic disease
journal, December 2012
- Grollman, Arthur P.
- Environmental and Molecular Mutagenesis, Vol. 54, Issue 1
TP53 Mutations in Human Cancers: Origins, Consequences, and Clinical Use
journal, November 2009
- Olivier, M.; Hollstein, M.; Hainaut, P.
- Cold Spring Harbor Perspectives in Biology, Vol. 2, Issue 1
Mechanisms underlying mutational signatures in human cancers
journal, July 2014
- Helleday, Thomas; Eshtad, Saeed; Nik-Zainal, Serena
- Nature Reviews Genetics, Vol. 15, Issue 9
Intrinsic mutagenic properties of 5-chlorocytosine: A mechanistic connection between chronic inflammation and cancer
journal, August 2015
- Fedeles, Bogdan I.; Freudenthal, Bret D.; Yau, Emily
- Proceedings of the National Academy of Sciences, Vol. 112, Issue 33
UV Signature Mutations
journal, November 2014
- Brash, Douglas E.
- Photochemistry and Photobiology, Vol. 91, Issue 1
Spatial and temporal diversity in genomic instability processes defines lung cancer evolution
journal, October 2014
- de Bruin, E. C.; McGranahan, N.; Mitter, R.
- Science, Vol. 346, Issue 6206
Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-Smokers
journal, September 2012
- Govindan, Ramaswamy; Ding, Li; Griffith, Malachi
- Cell, Vol. 150, Issue 6
Mutational Analysis Reveals the Origin and Therapy-Driven Evolution of Recurrent Glioma
journal, December 2013
- Johnson, B. E.; Mazor, T.; Hong, C.
- Science, Vol. 343, Issue 6167
Variation in cancer risk among tissues can be explained by the number of stem cell divisions
journal, January 2015
- Tomasetti, Cristian; Vogelstein, Bert
- Science, Vol. 347, Issue 6217
Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
journal, March 2012
- Gerlinger, Marco; Rowan, Andrew J.; Horswell, Stuart
- New England Journal of Medicine, Vol. 366, Issue 10
The Mutational Landscape of Head and Neck Squamous Cell Carcinoma
journal, July 2011
- Stransky, N.; Egloff, A. M.; Tward, A. D.
- Science, Vol. 333, Issue 6046
Modelling mutational landscapes of human cancers in vitro
journal, March 2014
- Olivier, Magali; Weninger, Annette; Ardin, Maude
- Scientific Reports, Vol. 4, Issue 1
Patterns of somatic mutation in human cancer genomes
journal, March 2007
- Greenman, Christopher; Stephens, Philip; Smith, Raffaella
- Nature, Vol. 446, Issue 7132
Genomics of Cancer and a New Era for Cancer Prevention
journal, November 2015
- Brennan, Paul; Wild, Christopher P.
- PLOS Genetics, Vol. 11, Issue 11
Genome-Wide Mutational Signature of the Chemotherapeutic Agent Mitomycin C in Caenorhabditis elegans
journal, November 2015
- Tam, Annie S.; Chu, Jeffrey S. C.; Rose, Ann M.
- G3: Genes|Genomes|Genetics, Vol. 6, Issue 1
Hepatocellular Carcinoma: From Gene to Public Health
journal, December 1997
- Montesano, R.; Hainaut, P.; Wild, C. P.
- JNCI Journal of the National Cancer Institute, Vol. 89, Issue 24
Clustered and genome-wide transient mutagenesis in human cancers: Hypermutation without permanent mutators or loss of fitness: Prospects & Overviews
journal, February 2014
- Roberts, Steven A.; Gordenin, Dmitry A.
- BioEssays, Vol. 36, Issue 4
The role of activation-induced cytidine deaminase in lymphomagenesis
journal, January 2012
- Gu, Xiwen; Shivarov, Velizar; Strout, Matthew P.
- Current Opinion in Hematology, Vol. 19, Issue 4
APOBEC-Induced Cancer Mutations Are Uniquely Enriched in Early-Replicating, Gene-Dense, and Active Chromatin Regions
journal, November 2015
- Kazanov, Marat D.; Roberts, Steven A.; Polak, Paz
- Cell Reports, Vol. 13, Issue 6
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas
journal, April 1989
- Baker, S.; Fearon, E.; Nigro, J.
- Science, Vol. 244, Issue 4901
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets
journal, March 2015
- Schulze, Kornelius; Imbeaud, Sandrine; Letouzé, Eric
- Nature Genetics, Vol. 47, Issue 5
Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis
journal, June 2014
- Weaver, Jamie M. J.; Ross-Innes, Caryn S.; Shannon, Nicholas
- Nature Genetics, Vol. 46, Issue 8
Mutagenesis of Human p53 Tumor Suppressor Gene Sequences in Embryonic Fibroblasts of Genetically-Enginered Mice
book, January 2007
- Liu, Zhipei; Belharazem, Djeda; Muehlbauer, Karl Rudolf
- Genetic Engineering
Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing
journal, October 2014
- Zhang, J.; Fujimoto, J.; Zhang, J.
- Science, Vol. 346, Issue 6206
Tobacco smoke carcinogens, DNA damage and p53 mutations in smoking-associated cancers
journal, October 2002
- Pfeifer, Gerd P.; Denissenko, Mikhail F.; Olivier, Magali
- Oncogene, Vol. 21, Issue 48
An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers
journal, August 2015
- Chan, Kin; Roberts, Steven A.; Klimczak, Leszek J.
- Nature Genetics, Vol. 47, Issue 9
Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells
journal, December 2014
- Severson, Paul L.; Vrba, Lukas; Stampfer, Martha R.
- Mutation Research/Genetic Toxicology and Environmental Mutagenesis, Vol. 775-776
Pan-cancer analysis of the extent and consequences of intratumor heterogeneity
journal, November 2015
- Andor, Noemi; Graham, Trevor A.; Jansen, Marnix
- Nature Medicine, Vol. 22, Issue 1
Instability and decay of the primary structure of DNA
journal, April 1993
- Lindahl, Tomas
- Nature, Vol. 362, Issue 6422
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
journal, April 2015
- Zhang, Ling; Zhou, Yong; Cheng, Caixia
- The American Journal of Human Genetics, Vol. 96, Issue 4
Bad luck and cancer: Does evolution spin the wheel of fortune?
journal, March 2015
- Roche, Benjamin; Ujvari, Beata; Thomas, Frédéric
- BioEssays, Vol. 37, Issue 6
Aristolochic acid nephropathy: Harbinger of a global iatrogenic disease
journal, December 2012
- Grollman, Arthur P.
- Environmental and Molecular Mutagenesis, Vol. 54, Issue 1
Impact of functional germline variants and a deletion polymorphism in APOBEC3A and APOBEC3B on breast cancer risk and survival in a Swedish study population
journal, August 2015
- Göhler, Stella; Da Silva Filho, Miguel Inacio; Johansson, Robert
- Journal of Cancer Research and Clinical Oncology, Vol. 142, Issue 1
Carcinogens induce targeted mutations in Escherichia coli
journal, November 1982
- Miller, Jeffrey H.
- Cell, Vol. 31, Issue 1
Hallmarks of Cancer: The Next Generation
journal, March 2011
- Hanahan, Douglas; Weinberg, Robert A.
- Cell, Vol. 144, Issue 5
Mutational Processes Molding the Genomes of 21 Breast Cancers
journal, May 2012
- Nik-Zainal, Serena; Alexandrov, Ludmil B.; Wedge, David C.
- Cell, Vol. 149, Issue 5
Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-Smokers
journal, September 2012
- Govindan, Ramaswamy; Ding, Li; Griffith, Malachi
- Cell, Vol. 150, Issue 6
Deciphering Signatures of Mutational Processes Operative in Human Cancer
journal, January 2013
- Alexandrov, Ludmil B.; Nik-Zainal, Serena; Wedge, David C.
- Cell Reports, Vol. 3, Issue 1
APOBEC-Induced Cancer Mutations Are Uniquely Enriched in Early-Replicating, Gene-Dense, and Active Chromatin Regions
journal, November 2015
- Kazanov, Marat D.; Roberts, Steven A.; Polak, Paz
- Cell Reports, Vol. 13, Issue 6
AID expression in B-cell lymphomas causes accumulation of genomic uracil and a distinct AID mutational signature
journal, January 2015
- Pettersen, Henrik Sahlin; Galashevskaya, Anastasia; Doseth, Berit
- DNA Repair, Vol. 25
Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells
journal, December 2014
- Severson, Paul L.; Vrba, Lukas; Stampfer, Martha R.
- Mutation Research/Genetic Toxicology and Environmental Mutagenesis, Vol. 775-776
Analysis of TP53 mutation spectra reveals the fingerprint of the potent environmental carcinogen, aristolochic acid
journal, July 2013
- Hollstein, M.; Moriya, M.; Grollman, A. P.
- Mutation Research/Reviews in Mutation Research, Vol. 753, Issue 1
Functions and regulation of the APOBEC family of proteins
journal, May 2012
- Smith, Harold C.; Bennett, Ryan P.; Kizilyer, Ayse
- Seminars in Cell & Developmental Biology, Vol. 23, Issue 3
Papillomaviruses in the causation of human cancers — a brief historical account
journal, February 2009
- zur Hausen, Harald
- Virology, Vol. 384, Issue 2
Patterns of somatic mutation in human cancer genomes
journal, March 2007
- Greenman, Christopher; Stephens, Philip; Smith, Raffaella
- Nature, Vol. 446, Issue 7132
Signatures of mutational processes in human cancer
journal, August 2013
- Alexandrov, Ludmil B.; Nik-Zainal, Serena; Wedge, David C.
- Nature, Vol. 500, Issue 7463
The mutational landscapes of genetic and chemical models of Kras-driven lung cancer
journal, November 2014
- Westcott, Peter M. K.; Halliwill, Kyle D.; To, Minh D.
- Nature, Vol. 517, Issue 7535
Variation in genomic landscape of clear cell renal cell carcinoma across Europe
journal, October 2014
- Scelo, Ghislaine; Riazalhosseini, Yasser; Greger, Liliana
- Nature Communications, Vol. 5, Issue 1
Mutational landscape of intrahepatic cholangiocarcinoma
journal, December 2014
- Zou, Shanshan; Li, Jiarui; Zhou, Huabang
- Nature Communications, Vol. 5, Issue 1
A mutational signature in gastric cancer suggests therapeutic strategies
journal, October 2015
- Alexandrov, Ludmil B.; Nik-Zainal, Serena; Siu, Hoi Cheong
- Nature Communications, Vol. 6, Issue 1
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity
journal, March 2013
- Dulak, Austin M.; Stojanov, Petar; Peng, Shouyong
- Nature Genetics, Vol. 45, Issue 5
Evidence for APOBEC3B mutagenesis in multiple human cancers
journal, July 2013
- Burns, Michael B.; Temiz, Nuri A.; Harris, Reuben S.
- Nature Genetics, Vol. 45, Issue 9
Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer
journal, April 2014
- Nik-Zainal, Serena; Wedge, David C.; Alexandrov, Ludmil B.
- Nature Genetics, Vol. 46, Issue 5
Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis
journal, June 2014
- Weaver, Jamie M. J.; Ross-Innes, Caryn S.; Shannon, Nicholas
- Nature Genetics, Vol. 46, Issue 8
Avalanching mutations in biallelic mismatch repair deficiency syndrome
journal, February 2015
- Waterfall, Joshua J.; Meltzer, Paul S.
- Nature Genetics, Vol. 47, Issue 3
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets
journal, March 2015
- Schulze, Kornelius; Imbeaud, Sandrine; Letouzé, Eric
- Nature Genetics, Vol. 47, Issue 5
Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma
journal, July 2015
- Ross-Innes, Caryn S.; Becq, Jennifer; Warren, Andrew
- Nature Genetics, Vol. 47, Issue 9
An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers
journal, August 2015
- Chan, Kin; Roberts, Steven A.; Klimczak, Leszek J.
- Nature Genetics, Vol. 47, Issue 9
Clock-like mutational processes in human somatic cells
journal, November 2015
- Alexandrov, Ludmil B.; Jones, Philip H.; Wedge, David C.
- Nature Genetics, Vol. 47, Issue 12
Pan-cancer analysis of the extent and consequences of intratumor heterogeneity
journal, November 2015
- Andor, Noemi; Graham, Trevor A.; Jansen, Marnix
- Nature Medicine, Vol. 22, Issue 1
Radical causes of cancer
journal, April 2003
- Hussain, S. Perwez; Hofseth, Lorne J.; Harris, Curtis C.
- Nature Reviews Cancer, Vol. 3, Issue 4
Mechanisms underlying mutational signatures in human cancers
journal, July 2014
- Helleday, Thomas; Eshtad, Saeed; Nik-Zainal, Serena
- Nature Reviews Genetics, Vol. 15, Issue 9
The age distribution of cancer and a multi-stage theory of carcinogenesis
journal, December 2004
- Armitage, P.; Doll, R.
- British Journal of Cancer, Vol. 91, Issue 12
Tobacco smoke carcinogens, DNA damage and p53 mutations in smoking-associated cancers
journal, October 2002
- Pfeifer, Gerd P.; Denissenko, Mikhail F.; Olivier, Magali
- Oncogene, Vol. 21, Issue 48
Modelling mutational landscapes of human cancers in vitro
journal, March 2014
- Olivier, Magali; Weninger, Annette; Ardin, Maude
- Scientific Reports, Vol. 4, Issue 1
Human tumor p53 mutations are selected for in mouse embryonic fibroblasts harboring a humanized p53 gene
journal, February 2004
- Liu, Z.; Hergenhahn, M.; Schmeiser, H. H.
- Proceedings of the National Academy of Sciences, Vol. 101, Issue 9
Aristolochic acid and the etiology of endemic (Balkan) nephropathy
journal, July 2007
- Grollman, A. P.; Shibutani, S.; Moriya, M.
- Proceedings of the National Academy of Sciences, Vol. 104, Issue 29
Intrinsic mutagenic properties of 5-chlorocytosine: A mechanistic connection between chronic inflammation and cancer
journal, August 2015
- Fedeles, Bogdan I.; Freudenthal, Bret D.; Yau, Emily
- Proceedings of the National Academy of Sciences, Vol. 112, Issue 33
How the environment shapes cancer genomes
journal, January 2015
- Pfeifer, Gerd P.
- Current Opinion in Oncology, Vol. 27, Issue 1
A simple model-based approach to inferring and visualizing cancer mutation signatures
journal, June 2015
- Shiraishi, Yuichi; Tremmel, Georg; Miyano, Satoru
- PLoS Genetics
TP53 Mutations in Human Cancers: Origins, Consequences, and Clinical Use
journal, November 2009
- Olivier, M.; Hollstein, M.; Hainaut, P.
- Cold Spring Harbor Perspectives in Biology, Vol. 2, Issue 1
Mutant p53 Gain-of-Function in Cancer
journal, December 2009
- Oren, M.; Rotter, V.
- Cold Spring Harbor Perspectives in Biology, Vol. 2, Issue 2
UV Signature Mutations
journal, November 2014
- Brash, Douglas E.
- Photochemistry and Photobiology, Vol. 91, Issue 1
Cancer Genome Landscapes
journal, March 2013
- Vogelstein, B.; Papadopoulos, N.; Velculescu, V. E.
- Science, Vol. 339, Issue 6127
Mutational Analysis Reveals the Origin and Therapy-Driven Evolution of Recurrent Glioma
journal, December 2013
- Johnson, B. E.; Mazor, T.; Hong, C.
- Science, Vol. 343, Issue 6167
Preferential Formation of Benzo[a]pyrene Adducts at Lung Cancer Mutational Hotspots in P53
journal, October 1996
- Denissenko, M. F.; Pao, A.; Tang, M. -s.
- Science, Vol. 274, Issue 5286
Whole-Genome Sequencing of Asian Lung Cancers: Second-Hand Smoke Unlikely to Be Responsible for Higher Incidence of Lung Cancer among Asian Never-Smokers
journal, September 2014
- Krishnan, V. G.; Ebert, P. J.; Ting, J. C.
- Cancer Research, Vol. 74, Issue 21
Low-Coverage Exome Sequencing Screen in Formalin-Fixed Paraffin-Embedded Tumors Reveals Evidence of Exposure to Carcinogenic Aristolochic Acid
journal, September 2015
- Castells, X.; Karanovi , S.; Ardin, M.
- Cancer Epidemiology Biomarkers & Prevention, Vol. 24, Issue 12
Overestimating the Role of Environment in Cancers
journal, October 2016
- Noble, Robert; Kaltz, Oliver; Nunney, Leonard
- Cancer Prevention Research, Vol. 9, Issue 10
Mutation signatures implicate aristolochic acid in bladder cancer development
journal, April 2015
- Poon, Song Ling; Huang, Mi Ni; Choo, Yang
- Genome Medicine, Vol. 7, Issue 1
Next-Generation Sequencing of RNA and DNA Isolated from Paired Fresh-Frozen and Formalin-Fixed Paraffin-Embedded Samples of Human Cancer and Normal Tissue
journal, May 2014
- Hedegaard, Jakob; Thorsen, Kasper; Lund, Mette Katrine
- PLoS ONE, Vol. 9, Issue 5
Whole-Genome Profiling of Mutagenesis in Caenorhabditis elegans
journal, May 2010
- Flibotte, Stephane; Edgley, Mark L.; Chaudhry, Iasha
- Genetics, Vol. 185, Issue 2
AID/APOBEC deaminases and cancer
journal, April 2015
- Rebhandl, Stefan; Huemer, Michael; Greil, Richard
- Oncoscience, Vol. 2
APOBEC3 in papillomavirus restriction, evolution and cancer progression
journal, November 2015
- Warren, Cody J.; Pyeon, Dohun
- Oncotarget, Vol. 6, Issue 37
Works referencing / citing this record:
Nucleotide Excision Repair: From Neurodegeneration to Cancer
book, January 2017
- Liakos, Anastasios; Lavigne, Matthieu D.; Fousteri, Maria
- Advances in Experimental Medicine and Biology
Identification of SERPINE1, PLAU and ACTA1 as biomarkers of head and neck squamous cell carcinoma based on integrated bioinformatics analysis
journal, April 2019
- Yang, Ke; Zhang, Shizhou; Zhang, Dongsheng
- International Journal of Clinical Oncology, Vol. 24, Issue 9
Socio-economic Determinants of Bone Health from Past to Present
journal, July 2019
- Miszkiewicz, Justyna J.; Cooke, Karen M.
- Clinical Reviews in Bone and Mineral Metabolism, Vol. 17, Issue 3-4
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature
journal, September 2018
- Inman, Gareth J.; Wang, Jun; Nagano, Ai
- Nature Communications, Vol. 9, Issue 1
Single gold-bridged nanoprobes for identification of single point DNA mutations
journal, February 2019
- Ma, Xingyi; Song, Sojin; Kim, Soohyun
- Nature Communications, Vol. 10, Issue 1
Towards quantitative and multiplexed in vivo functional cancer genomics
journal, September 2018
- Winters, Ian P.; Murray, Christopher W.; Winslow, Monte M.
- Nature Reviews Genetics, Vol. 19, Issue 12
Computational approaches for discovery of mutational signatures in cancer
journal, July 2017
- Baez-Ortega, Adrian; Gori, Kevin
- Briefings in Bioinformatics, Vol. 20, Issue 1
Exploring background mutational processes to decipher cancer genetic heterogeneity
journal, May 2017
- Goncearenco, Alexander; Rager, Stephanie L.; Li, Minghui
- Nucleic Acids Research, Vol. 45, Issue W1
Sequencing Chemically Induced Mutations in the Mutamouse Lacz Reporter Gene Identifies Human Cancer Mutational Signatures
posted_content, November 2019
- Beal, Marc A.; Meier, Matt J.; LeBlanc, Danielle
Worldwide research trends on aristolochic acids (1957–2017): Suggestions for researchers
journal, May 2019
- Zhou, Qiang; Pei, Jin; Poon, Josiah
- PLOS ONE, Vol. 14, Issue 5
DNA Rereplication Is Susceptible to Nucleotide-Level Mutagenesis
journal, April 2019
- Bui, Duyen T.; Li, Joachim J.
- Genetics, Vol. 212, Issue 2
Computational approaches for discovery of mutational signatures in cancer
posted_content, June 2017
- Baez-Ortega, Adrian; Gori, Kevin
Computational approaches for discovery of mutational signatures in cancer.
text, January 2019
- Baez-Ortega, Adrian; Gori, Kevin
- Apollo - University of Cambridge Repository
Modeling cancer driver events in vitro using barrier bypass-clonal expansion assays and massively parallel sequencing
journal, July 2017
- Huskova, H.; Ardin, M.; Weninger, A.
- Oncogene, Vol. 36, Issue 43
Single gold-bridged nanoprobes for identification of single point DNA mutations
journal, February 2019
- Ma, Xingyi; Song, Sojin; Kim, Soohyun
- Nature Communications, Vol. 10, Issue 1
Worldwide research trends on aristolochic acids (1957–2017): Suggestions for researchers
journal, May 2019
- Zhou, Qiang; Pei, Jin; Poon, Josiah
- PLOS ONE, Vol. 14, Issue 5
DNA Rereplication Is Susceptible to Nucleotide-Level Mutagenesis
journal, April 2019
- Bui, Duyen T.; Li, Joachim J.
- Genetics, Vol. 212, Issue 2