The landscape of cancer genes and mutational processes in breast cancer

Stephens, Philip J., Tarpey, Patrick S., Davies, Helen, Van Loo, Peter, Greenman, Chris, Wedge, David C., Zainal, Serena Nik, Martin, Sancha, Varela, Ignacio, Bignell, Graham R., Yates, Lucy R., Papaemmanuil, Elli, Beare, David, Butler, Adam, Cheverton, Angela, Gamble, John, Hinton, Jonathan, Jia, Mingming, Jayakumar, Alagu, Jones, David, Latimer, Calli, Lau, King Wai, McLaren, Stuart, McBride, David J., Menzies, Andrew, Mudie, Laura, Raine, Keiran, Rad, Roland, Spencer Chapman, Michael, Teague, Jon, Easton, Douglas, Langerød, Anita, , The Oslo Breast Cancer Consortium (OSBREAC), Lee, Ming Ta Michael, Shen, Chen-Yang, Tee, Benita Tan Kiat, Huimin, Bernice Wong, Broeks, Annegien, Vargas, Ana Cristina, Turashvili, Gulisa, Martens, John, Fatima, Aquila, Miron, Penelope, Chin, Suet-Feung, Thomas, Gilles, Boyault, Sandrine, Mariani, Odette, Lakhani, Sunil R., van de Vijver, Marc, van't Veer, Laura, Foekens, John, Desmedt, Christine, Sotiriou, Christos, Tutt, Andrew, Caldas, Carlos, Reis-Filho, Jorge S., Aparicio, Samuel A. J. R., Vincent Salomon, Anne, Børresen-Dale, Anne-Lise, Richardson, Andrea L., Campbell, Peter J., Futreal, P. Andrew and Stratton, Michael R. (2012) The landscape of cancer genes and mutational processes in breast cancer. Nature, 486 (7403). 400–404. ISSN 0028-0836

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Abstract

All cancers carry somatic mutations in their genomes. A subset, known as driver mutations, confer clonal selective advantage on cancer cells and are causally implicated in oncogenesis1, and the remainder are passenger mutations. The driver mutations and mutational processes operative in breast cancer have not yet been comprehensively explored. Here we examine the genomes of 100 tumours for somatic copy number changes and mutations in the coding exons of protein-coding genes. The number of somatic mutations varied markedly between individual tumours. We found strong correlations between mutation number, age at which cancer was diagnosed and cancer histological grade, and observed multiple mutational signatures, including one present in about ten per cent of tumours characterized by numerous mutations of cytosine at TpC dinucleotides. Driver mutations were identified in several new cancer genes including AKT2, ARID1B, CASP8, CDKN1B, MAP3K1, MAP3K13, NCOR1, SMARCD1 and TBX3. Among the 100 tumours, we found driver mutations in at least 40 cancer genes and 73 different combinations of mutated cancer genes. The results highlight the substantial genetic diversity underlying this common disease.

Item Type: Article
Uncontrolled Keywords: sdg 3 - good health and well-being ,/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
Faculty \ School: Faculty of Science > School of Computing Sciences

University of East Anglia > Faculty of Science > Research Groups > Computational Biology (subgroups are shown below) > Analysis and models of genomic variation
Depositing User: Pure Connector
Date Deposited: 09 Jun 2014 20:40
Last Modified: 25 May 2022 09:30
URI: https://ueaeprints.uea.ac.uk/id/eprint/48569
DOI: 10.1038/nature11017

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