Signatures of mutational processes in human cancer

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Signatures of mutational processes in human cancer. / Alexandrov, Ludmil B.; Nik-Zainal, Serena; Wedge, David C.; Aparicio, Samuel A. J. R.; Behjati, Sam; Biankin, Andrew V.; Bignell, Graham R.; Bolli, Niccolo; Borg, Åke; Borresen-Dale, Anne-Lise; Boyault, Sandrine; Burkhardt, Birgit; Butler, Adam P.; Caldas, Carlos; Davies, Helen R.; Desmedt, Christine; Eils, Roland; Eyfjord, Jorunn Erla; Foekens, John A.; Greaves, Mel; Hosoda, Fumie; Hutter, Barbara; Ilicic, Tomislav; Imbeaud, Sandrine; Imielinsk, Marcin; Jaeger, Natalie; Jones, David T. W.; Jones, David; Knappskog, Stian; Kool, Marcel; Lakhani, Sunil R.; Lopez-Otin, Carlos; Martin, Sancha; Munshi, Nikhil C.; Nakamura, Hiromi; Northcott, Paul A.; Pajic, Marina; Papaemmanuil, Elli; Paradiso, Angelo; Pearson, John V.; Puente, Xose S.; Raine, Keiran; Ramakrishna, Manasa; Richardson, Andrea L.; Richter, Julia; Rosenstiel, Philip; Schlesner, Matthias; Schumacher, Ton N.; Span, Paul N.; Teague, Jon W.; Totoki, Yasushi; Tutt, Andrew N. J.; Valdes-Mas, Rafael; van Buuren, Marit M.; van 't Veer, Laura; Vincent-Salomon, Anne; Waddell, Nicola; Yates, Lucy R.; Zucman-Rossi, Jessica; Futreal, P. Andrew; McDermott, Ultan; Lichter, Peter; Meyerson, Matthew; Grimmond, Sean M.; Siebert, Reiner; Campo, Elias; Shibata, Tatsuhiro; Pfister, Stefan M.; Campbell, Peter J.; Stratton, Michael R.

In: Nature, Vol. 500, No. 7463, 2013, p. 415-421.

Research output: Contribution to journalArticle

Harvard

Alexandrov, LB, Nik-Zainal, S, Wedge, DC, Aparicio, SAJR, Behjati, S, Biankin, AV, Bignell, GR, Bolli, N, Borg, Å, Borresen-Dale, A-L, Boyault, S, Burkhardt, B, Butler, AP, Caldas, C, Davies, HR, Desmedt, C, Eils, R, Eyfjord, JE, Foekens, JA, Greaves, M, Hosoda, F, Hutter, B, Ilicic, T, Imbeaud, S, Imielinsk, M, Jaeger, N, Jones, DTW, Jones, D, Knappskog, S, Kool, M, Lakhani, SR, Lopez-Otin, C, Martin, S, Munshi, NC, Nakamura, H, Northcott, PA, Pajic, M, Papaemmanuil, E, Paradiso, A, Pearson, JV, Puente, XS, Raine, K, Ramakrishna, M, Richardson, AL, Richter, J, Rosenstiel, P, Schlesner, M, Schumacher, TN, Span, PN, Teague, JW, Totoki, Y, Tutt, ANJ, Valdes-Mas, R, van Buuren, MM, van 't Veer, L, Vincent-Salomon, A, Waddell, N, Yates, LR, Zucman-Rossi, J, Futreal, PA, McDermott, U, Lichter, P, Meyerson, M, Grimmond, SM, Siebert, R, Campo, E, Shibata, T, Pfister, SM, Campbell, PJ & Stratton, MR 2013, 'Signatures of mutational processes in human cancer', Nature, vol. 500, no. 7463, pp. 415-421. https://doi.org/10.1038/nature12477

APA

Alexandrov, L. B., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., ... Stratton, M. R. (2013). Signatures of mutational processes in human cancer. Nature, 500(7463), 415-421. https://doi.org/10.1038/nature12477

CBE

Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SAJR, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg Å, Borresen-Dale A-L, Boyault S, Burkhardt B, Butler AP, Caldas C, Davies HR, Desmedt C, Eils R, Eyfjord JE, Foekens JA, Greaves M, Hosoda F, Hutter B, Ilicic T, Imbeaud S, Imielinsk M, Jaeger N, Jones DTW, Jones D, Knappskog S, Kool M, Lakhani SR, Lopez-Otin C, Martin S, Munshi NC, Nakamura H, Northcott PA, Pajic M, Papaemmanuil E, Paradiso A, Pearson JV, Puente XS, Raine K, Ramakrishna M, Richardson AL, Richter J, Rosenstiel P, Schlesner M, Schumacher TN, Span PN, Teague JW, Totoki Y, Tutt ANJ, Valdes-Mas R, van Buuren MM, van 't Veer L, Vincent-Salomon A, Waddell N, Yates LR, Zucman-Rossi J, Futreal PA, McDermott U, Lichter P, Meyerson M, Grimmond SM, Siebert R, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR. 2013. Signatures of mutational processes in human cancer. Nature. 500(7463):415-421. https://doi.org/10.1038/nature12477

MLA

Vancouver

Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SAJR, Behjati S, Biankin AV et al. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415-421. https://doi.org/10.1038/nature12477

Author

Alexandrov, Ludmil B. ; Nik-Zainal, Serena ; Wedge, David C. ; Aparicio, Samuel A. J. R. ; Behjati, Sam ; Biankin, Andrew V. ; Bignell, Graham R. ; Bolli, Niccolo ; Borg, Åke ; Borresen-Dale, Anne-Lise ; Boyault, Sandrine ; Burkhardt, Birgit ; Butler, Adam P. ; Caldas, Carlos ; Davies, Helen R. ; Desmedt, Christine ; Eils, Roland ; Eyfjord, Jorunn Erla ; Foekens, John A. ; Greaves, Mel ; Hosoda, Fumie ; Hutter, Barbara ; Ilicic, Tomislav ; Imbeaud, Sandrine ; Imielinsk, Marcin ; Jaeger, Natalie ; Jones, David T. W. ; Jones, David ; Knappskog, Stian ; Kool, Marcel ; Lakhani, Sunil R. ; Lopez-Otin, Carlos ; Martin, Sancha ; Munshi, Nikhil C. ; Nakamura, Hiromi ; Northcott, Paul A. ; Pajic, Marina ; Papaemmanuil, Elli ; Paradiso, Angelo ; Pearson, John V. ; Puente, Xose S. ; Raine, Keiran ; Ramakrishna, Manasa ; Richardson, Andrea L. ; Richter, Julia ; Rosenstiel, Philip ; Schlesner, Matthias ; Schumacher, Ton N. ; Span, Paul N. ; Teague, Jon W. ; Totoki, Yasushi ; Tutt, Andrew N. J. ; Valdes-Mas, Rafael ; van Buuren, Marit M. ; van 't Veer, Laura ; Vincent-Salomon, Anne ; Waddell, Nicola ; Yates, Lucy R. ; Zucman-Rossi, Jessica ; Futreal, P. Andrew ; McDermott, Ultan ; Lichter, Peter ; Meyerson, Matthew ; Grimmond, Sean M. ; Siebert, Reiner ; Campo, Elias ; Shibata, Tatsuhiro ; Pfister, Stefan M. ; Campbell, Peter J. ; Stratton, Michael R. / Signatures of mutational processes in human cancer. In: Nature. 2013 ; Vol. 500, No. 7463. pp. 415-421.

RIS

TY - JOUR

T1 - Signatures of mutational processes in human cancer

AU - Alexandrov, Ludmil B.

AU - Nik-Zainal, Serena

AU - Wedge, David C.

AU - Aparicio, Samuel A. J. R.

AU - Behjati, Sam

AU - Biankin, Andrew V.

AU - Bignell, Graham R.

AU - Bolli, Niccolo

AU - Borg, Åke

AU - Borresen-Dale, Anne-Lise

AU - Boyault, Sandrine

AU - Burkhardt, Birgit

AU - Butler, Adam P.

AU - Caldas, Carlos

AU - Davies, Helen R.

AU - Desmedt, Christine

AU - Eils, Roland

AU - Eyfjord, Jorunn Erla

AU - Foekens, John A.

AU - Greaves, Mel

AU - Hosoda, Fumie

AU - Hutter, Barbara

AU - Ilicic, Tomislav

AU - Imbeaud, Sandrine

AU - Imielinsk, Marcin

AU - Jaeger, Natalie

AU - Jones, David T. W.

AU - Jones, David

AU - Knappskog, Stian

AU - Kool, Marcel

AU - Lakhani, Sunil R.

AU - Lopez-Otin, Carlos

AU - Martin, Sancha

AU - Munshi, Nikhil C.

AU - Nakamura, Hiromi

AU - Northcott, Paul A.

AU - Pajic, Marina

AU - Papaemmanuil, Elli

AU - Paradiso, Angelo

AU - Pearson, John V.

AU - Puente, Xose S.

AU - Raine, Keiran

AU - Ramakrishna, Manasa

AU - Richardson, Andrea L.

AU - Richter, Julia

AU - Rosenstiel, Philip

AU - Schlesner, Matthias

AU - Schumacher, Ton N.

AU - Span, Paul N.

AU - Teague, Jon W.

AU - Totoki, Yasushi

AU - Tutt, Andrew N. J.

AU - Valdes-Mas, Rafael

AU - van Buuren, Marit M.

AU - van 't Veer, Laura

AU - Vincent-Salomon, Anne

AU - Waddell, Nicola

AU - Yates, Lucy R.

AU - Zucman-Rossi, Jessica

AU - Futreal, P. Andrew

AU - McDermott, Ultan

AU - Lichter, Peter

AU - Meyerson, Matthew

AU - Grimmond, Sean M.

AU - Siebert, Reiner

AU - Campo, Elias

AU - Shibata, Tatsuhiro

AU - Pfister, Stefan M.

AU - Campbell, Peter J.

AU - Stratton, Michael R.

PY - 2013

Y1 - 2013

N2 - All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362 mutations from 7,042 cancers and extracted more than 20 distinct mutational signatures. Some are present in many cancer types, notably a signature attributed to the APOBEC family of cytidine deaminases, whereas others are confined to a single cancer class. Certain signatures are associated with age of the patient at cancer diagnosis, known mutagenic exposures or defects in DNA maintenance, but many are of cryptic origin. In addition to these genome-wide mutational signatures, hypermutation localized to small genomic regions, 'kataegis', is found in many cancer types. The results reveal the diversity of mutational processes underlying the development of cancer, with potential implications for understanding of cancer aetiology, prevention and therapy.

AB - All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362 mutations from 7,042 cancers and extracted more than 20 distinct mutational signatures. Some are present in many cancer types, notably a signature attributed to the APOBEC family of cytidine deaminases, whereas others are confined to a single cancer class. Certain signatures are associated with age of the patient at cancer diagnosis, known mutagenic exposures or defects in DNA maintenance, but many are of cryptic origin. In addition to these genome-wide mutational signatures, hypermutation localized to small genomic regions, 'kataegis', is found in many cancer types. The results reveal the diversity of mutational processes underlying the development of cancer, with potential implications for understanding of cancer aetiology, prevention and therapy.

U2 - 10.1038/nature12477

DO - 10.1038/nature12477

M3 - Article

VL - 500

SP - 415

EP - 421

JO - Nature

T2 - Nature

JF - Nature

SN - 0028-0836

IS - 7463

ER -