Title: The landscape of cancer genes and mutational processes in breast cancer
Authors: Stephens, Philip J *
Tarpey, Patrick S *
Davies, Helen
Van Loo, Peter
Greenman, Chris
Wedge, David C
Nik-Zainal, Serena
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
Chapman, Michael Spencer
Teague, Jon
Easton, Douglas
Langerød, Anita
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
Salomon, Anne Vincent
Børresen-Dale, Anne-Lise
Richardson, Andrea L
Campbell, Peter J
Futreal, P Andrew
Stratton, Michael R # ×
Issue Date: Jun-2012
Publisher: Nature Publishing Group
Series Title: Nature vol:486 issue:7403 pages:400-4
Article number: 10.1038/nature11017
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 oncogenesis, 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.
ISSN: 0028-0836
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Genome Laboratory
* (joint) first author
× corresponding author
# (joint) last author

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