Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

Orr, N.; Lemnrau, A.; Cooke, R.; Fletcher, O.; Tomczyk, K.; Jones, M.; Johnson, N.; Lord, C. J.; Mitsopoulos, C; Zvelebil, M.; McDade, S. S.; Buck, G.; Blancher, C.; Trainer, A. H.; James, P. A.; Bojesen, S. E.; Bokm, , S.; Nevanlinna, H.; Mattson, J.; Friedman, E; Laitman, Y.; Palli, D.; Masala, G.; Zanna, I.; Ottini, L.; Giannini, G.; Hollestelle, A.; Van Den Ouwel, , A. M. W.; Novaković, S.; Krajc, M.; Gago Dominguez, Manuela; Castelao Fernández, José Esteban; Olsson, H.; Hedenfalk, I.; Easton, D. F.; Pharoah, P. D. P.; Dunning, A. M.; Bishop, D. T.; Neuhausen, S. L.; Steele, L.; Houlston, R. S.; Garcia-Closas, M.; Ashworth, A.; Swerdlow, A. J.
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Identificadores
Identificadores
URI: http://hdl.handle.net/20.500.11940/571
PMID: 23001122
ISSN: 1061-4036
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Fecha de publicación
2012
Título de revista
NATURE GENETICS
Tipo de contenido
Artigo
DeCS
Neoplasias de la Mama Masculina | DNA-Binding Proteins | Proteínas de Unión al ADN | Estudio de Asociación del Genoma Completo
MeSH
Breast Neoplasms, Male | Chromosomes, Human, Pair 14 | DNA-Binding Proteins | European Continental Ancestry Group | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Male | Polymorphism, Single Nucleotide | Risk Factors
Resumen
We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P = 3.02 × 10-13; odds ratio (OR) = 1.57). We also refine association at 16q12.1 to a SNP within TOX3 (P = 3.87 × 10-15; OR = 1.50).