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

Nik-Zainal, Serena, Davies, Helen, Staaf, Johan, Ramakrishna, Manasa, Glodzik, Dominik, Zou, Xueqing, Martincorena, Inigo, Alexandrov, Ludmil B., Martin, Sancha, Wedge, David C., Van Loo, Peter, Ju, Young Seok, Smid, Marcel, Brinkman, Arie B., Morganella, Sandro, Aure, Miriam R., Lingjaerde, Ole Christian, Langerod, Anita, Ringner, Markus, Ahn, Sung-Min, Boyault, Sandrine, Brock, Jane E., Broeks, Annegien, Butler, Adam, Desmedt, Christine, Dirix, Luc, Dronov, Serge, Fatima, Aquila, Foekens, John A., Gerstung, Moritz, Hooijer, Gerrit K. J., Jang, Se Jin, Jones, David R., Kim, Hyung-Yong, King, Tari A., Krishnamurthy, Savitri, Lee, Hee Jin, Lee, Jeong-Yeon, Li, Yilong, McLaren, Stuart, Menzies, Andrew, Mustonen, Ville, O'Meara, Sarah, Pauporte, Iris, Pivot, Xavier, Purdie, Colin A., Raine, Keiran, Ramakrishnan, Kamna, Rodriguez-Gonzalez, F. German, Romieu, Gilles, Sieuwerts, Anieta M., Simpson, Peter T., Shepherd, Rebecca, Stebbings, Lucy, Stefansson, Olafur A., Teague, Jon, Tommasi, Stefania, Treilleux, Isabelle, Van den Eynden, Gert G., Vermeulen, Peter, Vincent-Salomon, Anne, Yates, Lucy, Caldas, Carlos, van't Veer, Laura, Tutt, Andrew, Knappskog, Stian, Tan, Benita Kiat Tee, Jonkers, Jos, Borg, Ake, Ueno, Naoto T., Sotiriou, Christos, Viari, Alain, Futreal, P. Andrew, Campbell, Peter J., Span, Paul N., Van Laere, Steven, Lakhani, Sunil R., Eyfjord, Jorunn E., Thompson, Alastair M., Birney, Ewan, Stunnenberg, Hendrik G., van de Vijver, Marc J., Martens, John W. M., Borresen-Dale, Anne-Lise, Richardson, Andrea L., Kong, Gu, Thomas, Gilles and Stratton, Michael R. (2016) Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature, 534 7605: 47-+. doi:10.1038/nature17676

Author Nik-Zainal, Serena
Davies, Helen
Staaf, Johan
Ramakrishna, Manasa
Glodzik, Dominik
Zou, Xueqing
Martincorena, Inigo
Alexandrov, Ludmil B.
Martin, Sancha
Wedge, David C.
Van Loo, Peter
Ju, Young Seok
Smid, Marcel
Brinkman, Arie B.
Morganella, Sandro
Aure, Miriam R.
Lingjaerde, Ole Christian
Langerod, Anita
Ringner, Markus
Ahn, Sung-Min
Boyault, Sandrine
Brock, Jane E.
Broeks, Annegien
Butler, Adam
Desmedt, Christine
Dirix, Luc
Dronov, Serge
Fatima, Aquila
Foekens, John A.
Gerstung, Moritz
Hooijer, Gerrit K. J.
Jang, Se Jin
Jones, David R.
Kim, Hyung-Yong
King, Tari A.
Krishnamurthy, Savitri
Lee, Hee Jin
Lee, Jeong-Yeon
Li, Yilong
McLaren, Stuart
Menzies, Andrew
Mustonen, Ville
O'Meara, Sarah
Pauporte, Iris
Pivot, Xavier
Purdie, Colin A.
Raine, Keiran
Ramakrishnan, Kamna
Rodriguez-Gonzalez, F. German
Romieu, Gilles
Sieuwerts, Anieta M.
Simpson, Peter T.
Shepherd, Rebecca
Stebbings, Lucy
Stefansson, Olafur A.
Teague, Jon
Tommasi, Stefania
Treilleux, Isabelle
Van den Eynden, Gert G.
Vermeulen, Peter
Vincent-Salomon, Anne
Yates, Lucy
Caldas, Carlos
van't Veer, Laura
Tutt, Andrew
Knappskog, Stian
Tan, Benita Kiat Tee
Jonkers, Jos
Borg, Ake
Ueno, Naoto T.
Sotiriou, Christos
Viari, Alain
Futreal, P. Andrew
Campbell, Peter J.
Span, Paul N.
Van Laere, Steven
Lakhani, Sunil R.
Eyfjord, Jorunn E.
Thompson, Alastair M.
Birney, Ewan
Stunnenberg, Hendrik G.
van de Vijver, Marc J.
Martens, John W. M.
Borresen-Dale, Anne-Lise
Richardson, Andrea L.
Kong, Gu
Thomas, Gilles
Stratton, Michael R.
Title Landscape of somatic mutations in 560 breast cancer whole-genome sequences
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
Publication date 2016-06-02
Year available 2016
Sub-type Article (original research)
DOI 10.1038/nature17676
Open Access Status Not yet assessed
Volume 534
Issue 7605
Start page 47
End page +
Total pages 20
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Subject 1000 General
Abstract We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing elevated mutation rates and do not contain driver mutations. Mutational signature analysis was extended to genome rearrangements and revealed twelve base substitution and six rearrangement signatures. Three rearrangement signatures, characterized by tandem duplications or deletions, appear associated with defective homologous-recombination-based DNA repair: one with deficient BRCA1 function, another with deficient BRCA1 or BRCA2 function, the cause of the third is unknown. This analysis of all classes of somatic mutation across exons, introns and intergenic regions highlights the repertoire of cancer genes and mutational processes operating, and progresses towards a comprehensive account of the somatic genetic basis of breast cancer.
Keyword Tert Promoter Mutations
Inverted Repeats
Gene Fusions
Copy Number
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID 242006
NIH/NCI 5 P50 CA168504-02
NRF 2011-0030105
NRF 2015R1A2A1A10052578
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: UQ Centre for Clinical Research Publications
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