TY - JOUR
T1 - The landscape of cancer genes and mutational processes in breast cancer
AU - AUTHOR GROUP
AU - Stephens, Philip J.
AU - Tarpey, Patrick S.
AU - Davies, Helen
AU - van Loo, Peter
AU - Greenman, Chris
AU - Wedge, David C.
AU - Nik-Zainal, Serena
AU - Martin, Sancha
AU - Varela, Ignacio
AU - Bignell, Graham R.
AU - Yates, Lucy R.
AU - Papaemmanuil, Elli
AU - Beare, David
AU - Butler, Adam
AU - Cheverton, Angela
AU - Gamble, John
AU - Hinton, Jonathan
AU - Jia, Mingming
AU - Jayakumar, Alagu
AU - Jones, David
AU - Latimer, Calli
AU - Lau, King Wai
AU - McLaren, Stuart
AU - McBride, David J.
AU - Menzies, Andrew
AU - Mudie, Laura
AU - Raine, Keiran
AU - Rad, Roland
AU - Chapman, Michael Spencer
AU - Teague, Jon
AU - Easton, Douglas
AU - Langerød, Anita
AU - Lee, Ming Ta Michael
AU - Shen, Chen-Yang
AU - tee, Benita Tan Kiat
AU - Huimin, Bernice Wong
AU - Broeks, Annegien
AU - Vargas, Ana Cristina
AU - Turashvili, Gulisa
AU - Martens, John
AU - Fatima, Aquila
AU - Miron, Penelope
AU - Chin, Suet-Feung
AU - Thomas, Gilles
AU - Boyault, Sandrine
AU - Mariani, Odette
AU - Lakhani, Sunil R.
AU - van de Vijver, Marc
AU - van 't Veer, Laura
AU - Foekens, John
PY - 2012
Y1 - 2012
N2 - 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(1), 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
AB - 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(1), 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
U2 - https://doi.org/10.1038/nature11017
DO - https://doi.org/10.1038/nature11017
M3 - Article
C2 - 22722201
SN - 0028-0836
VL - 486
SP - 400-+
JO - NATURE
JF - NATURE
IS - 7403
ER -