Deciphering Signatures of Mutational Processes Operative in Human Cancer
Ludmil B. Alexandrov,Serena Nik-Zainal,David C. Wedge,Peter J. Campbell,Peter J. Campbell,Michael R. Stratton +5 more
TLDR
This work models mutational processes as a blind source separation problem and provides a basis for characterizing mutational signatures from cancer-derived somatic mutational catalogs, paving the way to insights into the pathogenetic mechanism underlying all cancers.About:
This article is published in Cell Reports.The article was published on 2013-01-31 and is currently open access. It has received 1068 citations till now.read more
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Journal ArticleDOI
Signatures of mutational processes in human cancer
Ludmil B. Alexandrov,Serena Nik-Zainal,Serena Nik-Zainal,David C. Wedge,Samuel Aparicio,Sam Behjati,Sam Behjati,Andrew V. Biankin,Graham R. Bignell,Niccolo Bolli,Niccolo Bolli,Åke Borg,Anne Lise Børresen-Dale,Anne Lise Børresen-Dale,Sandrine Boyault,Birgit Burkhardt,Adam Butler,Carlos Caldas,Helen Davies,Christine Desmedt,Roland Eils,Jorunn E. Eyfjord,John A. Foekens,Mel Greaves,Fumie Hosoda,Barbara Hutter,Tomislav Ilicic,Sandrine Imbeaud,Sandrine Imbeaud,Marcin Imielinsk,Natalie Jäger,David T. W. Jones,David T. Jones,Stian Knappskog,Stian Knappskog,Marcel Kool,Sunil R. Lakhani,Carlos López-Otín,Sancha Martin,Nikhil C. Munshi,Nikhil C. Munshi,Hiromi Nakamura,Paul A. Northcott,Marina Pajic,Elli Papaemmanuil,Angelo Paradiso,John V. Pearson,Xose S. Puente,Keiran Raine,Manasa Ramakrishna,Andrea L. Richardson,Andrea L. Richardson,Julia Richter,Philip Rosenstiel,Matthias Schlesner,Ton N. Schumacher,Paul N. Span,Jon W. Teague,Yasushi Totoki,Andrew Tutt,Rafael Valdés-Mas,Marit M. van Buuren,Laura van ’t Veer,Anne Vincent-Salomon,Nicola Waddell,Lucy R. Yates,Icgc PedBrain,Jessica Zucman-Rossi,Jessica Zucman-Rossi,P. Andrew Futreal,Ultan McDermott,Peter Lichter,Matthew Meyerson,Matthew Meyerson,Sean M. Grimmond,Reiner Siebert,Elias Campo,Tatsuhiro Shibata,Stefan M. Pfister,Stefan M. Pfister,Peter J. Campbell,Peter J. Campbell,Peter J. Campbell,Michael R. Stratton,Michael R. Stratton +84 more
TL;DR: It is shown that hypermutation localized to small genomic regions, ‘kataegis’, is found in many cancer types, and this results reveal the diversity of mutational processes underlying the development of cancer.
Journal Article
Patterns of Somatic Mutation in Human Cancer Genomes
TL;DR: In this paper, the coding exons of the family of 518 protein kinases were sequenced in 210 cancers of diverse histological types to explore the nature of the information that will be derived from cancer genome sequencing.
Journal ArticleDOI
Genomic analyses identify molecular subtypes of pancreatic cancer
Peter Bailey,David K. Chang,Katia Nones,Katia Nones,Amber L. Johns,Ann-Marie Patch,Ann-Marie Patch,Marie-Claude Gingras,David Miller,David Miller,Angelika N. Christ,Timothy J. C. Bruxner,Michael C.J. Quinn,Michael C.J. Quinn,Craig Nourse,Craig Nourse,Murtaugh Lc,Ivon Harliwong,Senel Idrisoglu,Suzanne Manning,Ehsan Nourbakhsh,Shivangi Wani,Shivangi Wani,J. Lynn Fink,Oliver Holmes,Oliver Holmes,Chin,Matthew J. Anderson,Stephen H. Kazakoff,Stephen H. Kazakoff,Conrad Leonard,Conrad Leonard,Felicity Newell,Nicola Waddell,Scott Wood,Scott Wood,Qinying Xu,Qinying Xu,Peter J. Wilson,Nicole Cloonan,Nicole Cloonan,Karin S. Kassahn,Karin S. Kassahn,Karin S. Kassahn,Darrin Taylor,Kelly Quek,Alan J. Robertson,Lorena Pantano,Laura Mincarelli,Luis Navarro Sanchez,Lisa Evers,Jianmin Wu,Mark Pinese,Mark J. Cowley,Jones,Jones,Emily K. Colvin,Adnan Nagrial,Emily S. Humphrey,Lorraine A. Chantrill,Lorraine A. Chantrill,Amanda Mawson,Jeremy L. Humphris,Angela Chou,Angela Chou,Marina Pajic,Marina Pajic,Christopher J. Scarlett,Christopher J. Scarlett,Andreia V. Pinho,Marc Giry-Laterriere,Ilse Rooman,Jaswinder S. Samra,James G. Kench,James G. Kench,James G. Kench,Jessica A. Lovell,Neil D. Merrett,Christopher W. Toon,Krishna Epari,Nam Q. Nguyen,Andrew Barbour,Nikolajs Zeps,Kim Moran-Jones,Nigel B. Jamieson,Janet Graham,Janet Graham,Fraser Duthie,Karin A. Oien,Karin A. Oien,Hair J,Robert Grützmann,Anirban Maitra,Christine A. Iacobuzio-Donahue,Christopher L. Wolfgang,Richard A. Morgan,Rita T. Lawlor,Corbo,Claudio Bassi,Borislav Rusev,Paola Capelli,Roberto Salvia,Giampaolo Tortora,Debabrata Mukhopadhyay,Gloria M. Petersen,Munzy Dm,William E. Fisher,Saadia A. Karim,Eshleman,Ralph H. Hruban,Christian Pilarsky,Jennifer P. Morton,Owen J. Sansom,Aldo Scarpa,Elizabeth A. Musgrove,Ulla-Maja Bailey,Oliver Hofmann,Oliver Hofmann,R. L. Sutherland,David A. Wheeler,Anthony J. Gill,Anthony J. Gill,Richard A. Gibbs,John V. Pearson,John V. Pearson,Andrew V. Biankin,Sean M. Grimmond,Sean M. Grimmond,Sean M. Grimmond +128 more
TL;DR: Detailed genomic analysis of 456 pancreatic ductal adenocarcinomas identified 32 recurrently mutated genes that aggregate into 10 pathways: KRAS, TGF-β, WNT, NOTCH, ROBO/SLIT signalling, G1/S transition, SWI-SNF, chromatin modification, DNA repair and RNA processing.
Journal ArticleDOI
Maftools: efficient and comprehensive analysis of somatic variants in cancer.
Anand Mayakonda,Anand Mayakonda,De-Chen Lin,Yassen Assenov,Yassen Assenov,Christoph Plass,Christoph Plass,H. Phillip Koeffler,H. Phillip Koeffler +8 more
TL;DR: An R Bioconductor package, Maftools, is described, which offers a multitude of analysis and visualization modules that are commonly used in cancer genomic studies, including driver gene identification, pathway, signature, enrichment, and association analyses, and is independent of larger alignment files.
Journal ArticleDOI
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
Serena Nik-Zainal,Serena Nik-Zainal,Helen Davies,Johan Staaf,Manasa Ramakrishna,Dominik Glodzik,Xueqing Zou,Inigo Martincorena,Ludmil B. Alexandrov,Sancha Martin,David C. Wedge,Peter Van Loo,Young Seok Ju,Michiel M. Smid,Arie B. Brinkman,Sandro Morganella,Miriam Ragle Aure,Ole Christian Lingjærde,Anita Langerød,Markus Ringnér,Sung-Min Ahn,Sandrine Boyault,Jane E. Brock,Annegien Broeks,Adam Butler,Christine Desmedt,Luc Dirix,Serge Dronov,Aquila Fatima,John A. Foekens,Moritz Gerstung,Gerrit Gk Hooijer,Se Jin Jang,David Jones,Hyung-Yong Kim,Tari Ta King,Savitri Krishnamurthy,Hee Jin Lee,Jeong-Yeon Lee,Yang Li,Stuart McLaren,Andrew Menzies,Ville Mustonen,Sarah O’Meara,Iris Pauporté,Xavier Pivot,Colin Ca Purdie,Keiran Raine,Kamna Ramakrishnan,Germán Fg Rodríguez-González,Gilles Romieu,Anieta M. Sieuwerts,Peter Pt Simpson,Rebecca Shepherd,Lucy Stebbings,Olafur Oa Stefansson,Jon W. Teague,Stefania Tommasi,Isabelle Treilleux,Gert Van den Eynden,Peter B. Vermeulen,Anne Vincent-Salomon,Lucy R. Yates,Carlos Caldas,Laura Van't Veer,Andrew Tutt,Andrew Tutt,Stian Knappskog,Benita Kiat Tee Bk Tan,Jos Jonkers,Åke Borg,Naoto T. Ueno,Christos Sotiriou,Alain Viari,P. Andrew Futreal,Peter J. Campbell,Paul N. Span,Steven Van Laere,Sunil R. Lakhani,Jorunn E. Eyfjord,Alastair M Thompson,Ewan Birney,Hendrik G. Stunnenberg,Marc J. van de Vijver,John W.M. Martens,Anne Lise Børresen-Dale,Andrea L. Richardson,Gu Kong,Gilles Thomas,Michael R. Stratton +89 more
TL;DR: This analysis of all classes of somatic mutation across exons, introns and intergenic regions highlights the repertoire of cancer genes and mutational processes operative, and progresses towards a comprehensive account of the somatic genetic basis of breast cancer.
References
More filters
Journal ArticleDOI
Silhouettes: a graphical aid to the interpretation and validation of cluster analysis
TL;DR: A new graphical display is proposed for partitioning techniques, where each cluster is represented by a so-called silhouette, which is based on the comparison of its tightness and separation, and provides an evaluation of clustering validity.
Journal ArticleDOI
Learning the parts of objects by non-negative matrix factorization
TL;DR: An algorithm for non-negative matrix factorization is demonstrated that is able to learn parts of faces and semantic features of text and is in contrast to other methods that learn holistic, not parts-based, representations.
Learning parts of objects by non-negative matrix factorization
TL;DR: In this article, non-negative matrix factorization is used to learn parts of faces and semantic features of text, which is in contrast to principal components analysis and vector quantization that learn holistic, not parts-based, representations.
Journal ArticleDOI
Data clustering: 50 years beyond K-means
TL;DR: A brief overview of clustering is provided, well known clustering methods are summarized, the major challenges and key issues in designing clustering algorithms are discussed, and some of the emerging and useful research directions are pointed out.
Book ChapterDOI
Data Clustering: 50 Years Beyond K-means
TL;DR: Cluster analysis as mentioned in this paper is the formal study of algorithms and methods for grouping objects according to measured or perceived intrinsic characteristics, which is one of the most fundamental modes of understanding and learning.
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