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Title: Mutational processes molding the genomes of 21 breast cancers
Authors: Nik-Zainal, Serena
Alexandrov, Ludmil B
Wedge, David C
Van Loo, Peter
Greenman, Christopher D
Raine, Keiran
Jones, David
Hinton, Jonathan
Marshall, John
Stebbings, Lucy A
Menzies, Andrew
Martin, Sancha
Leung, Kenric
Chen, Lina
Leroy, Catherine
Ramakrishna, Manasa
Rance, Richard
Lau, King Wai
Mudie, Laura J
Varela, Ignacio
McBride, David J
Bignell, Graham R
Cooke, Susanna L
Shlien, Adam
Gamble, John
Whitmore, Ian
Maddison, Mark
Tarpey, Patrick S
Davies, Helen R
Papaemmanuil, Elli
Stephens, Philip J
McLaren, Stuart
Butler, Adam P
Teague, Jon W
Jönsson, Göran
Garber, Judy E
Silver, Daniel
Miron, Penelope
Fatima, Aquila
Boyault, Sandrine
Langerød, Anita
Tutt, Andrew
Martens, John W M
Aparicio, Samuel A J R
Borg, Åke
Salomon, Anne Vincent
Thomas, Gilles
Børresen-Dale, Anne-Lise
Richardson, Andrea L
Neuberger, Michael S
Futreal, P Andrew
Campbell, Peter J
Stratton, Michael R ×
Breast Cancer Working Group of the International Cancer Genome Consortium #
Issue Date: May-2012
Publisher: MIT Press
Series Title: Cell vol:149 issue:5 pages:979-93
Article number: 10.1016/j.cell.2012.04.024
Abstract: All cancers carry somatic mutations. The patterns of mutation in cancer genomes reflect the DNA damage and repair processes to which cancer cells and their precursors have been exposed. To explore these mechanisms further, we generated catalogs of somatic mutation from 21 breast cancers and applied mathematical methods to extract mutational signatures of the underlying processes. Multiple distinct single- and double-nucleotide substitution signatures were discernible. Cancers with BRCA1 or BRCA2 mutations exhibited a characteristic combination of substitution mutation signatures and a distinctive profile of deletions. Complex relationships between somatic mutation prevalence and transcription were detected. A remarkable phenomenon of localized hypermutation, termed "kataegis," was observed. Regions of kataegis differed between cancers but usually colocalized with somatic rearrangements. Base substitutions in these regions were almost exclusively of cytosine at TpC dinucleotides. The mechanisms underlying most of these mutational signatures are unknown. However, a role for the APOBEC family of cytidine deaminases is proposed.
URI: 
ISSN: 0092-8674
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Genome Laboratory
× corresponding author
# (joint) last author

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