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Un estudio de asociación de todo el genoma identifica nuevos loci de susceptibilidad al cáncer de mama
Douglas F Easton1, Karen A Pooley, Alison M Dunning
1CR-UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK. d.easton@srl.cam.ac.uk
Nature
|May 29, 2007
Resumen
Los investigadores identificaron cinco nuevos loci genéticos asociados con el riesgo de cáncer de mama utilizando un gran estudio de asociación de todo el genoma. Este descubrimiento ayuda a explicar la base genética del cáncer de mama familiar más allá de los genes conocidos.
Área de la Ciencia:
- Genética La genética.
- Oncología Oncología.
- Epidemiología La epidemiología.
Sus antecedentes:
- El cáncer de mama muestra agregación familiar, lo que sugiere un componente genético para la susceptibilidad.
- Los genes de susceptibilidad identificados actualmente explican menos del 25% del riesgo familiar de cáncer de mama.
- Es probable que la variación genética restante implique variantes con efectos de riesgo moderados.
Objetivo del estudio:
- Para identificar alelos de susceptibilidad genética adicionales para el cáncer de mama.
- Investigar las variantes comunes que contribuyen a la heredabilidad del cáncer de mama.
Principales métodos:
- Realizó un estudio de asociación de todo el genoma (GWAS) en dos etapas que involucró a miles de casos y controles.
- Se utilizaron 227,876 polimorfismos de nucleótido único (SNP) para imputar variantes comunes.
- Realizó una confirmación de tercera etapa de 30 SNP prometedores a través de 22 estudios independientes.
Principales resultados:
- Se identificaron cinco nuevos loci independientes significativamente asociados con el riesgo de cáncer de mama (P < 10^-7).
- Cuatro loci contienen genes candidatos plausibles: el FGFR2, el TNRC9, el MAP3K1 y el LSP1.1.
- El estudio identificó más SNPs significativos de lo esperado por casualidad, lo que sugiere la eficacia del enfoque.
Conclusiones:
- Los hallazgos amplían la comprensión de la susceptibilidad genética al cáncer de mama.
- Este enfoque GWAS es efectivo para descubrir alelos adicionales comunes de riesgo de cáncer de mama.
- Los genes identificados proporcionan objetivos potenciales para futuras investigaciones sobre la etiología del cáncer de mama.
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