En un 10% de los tumores humanos existe una historia familiar de la enfermedad asociada a mutaciones hereditarias en genes identificados. Los mayores ejemplos son los casos de poliposis en el intestino grueso asociados al gen APC y los de c\u00e1ncer de mama asociado a los genes BRCA1 y BRCA2. En el 90% de casos restantes se cree que existe un mayor riesgo de desarrollar un c\u00e1ncer en relaci\u00f3n a variantes gen\u00e9ticas de menor potencia pero mayor frecuencia, que por ejemplo, doblan el riesgo de tener el tumor respecto a una persona que no posee este peque\u00f1o cambio, denominado polimorfismo.<\/p>\n
\n<\/b>En la \u00faltima d\u00e9cada se han realizado centenares de estudios buscando polimorfismos asociados a una mayor propensi\u00f3n a padecer alguno de los tumores humanos m\u00e1s frecuentes. Estos an\u00e1lisis, llamados GWAS, han encontrado un problema frecuente: muchas veces el diminuto cambio gen\u00e9tico observado no parece tener ninguna actividad o funci\u00f3n que explique porque se asocia a m\u00e1s c\u00e1ncer.<\/p>\n
Hoy, un art\u00edculo publicado en Cell Reports <\/em>dirigido por Manel Esteller, Director del Programa de Epigen\u00e9tica y Biolog\u00eda del C\u00e1ncer del Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (IDIBELL), Investigador ICREA y Profesor de Gen\u00e9tica de la Universidad de Barcelona, \u200b\u200bresuelve en parte este enigma. La investigaci\u00f3n demuestra que en uno de cada cuatro tumores humanos la existencia de polimorfismos gen\u00e9ticos asociados a un mayor riesgo de c\u00e1ncer causan un cambio epigen\u00e9tico que cambia la expresi\u00f3n de los genes colindantes.<\/p>\n \u201cEl trabajo representa un esfuerzo herc\u00faleo de analizar bioinform\u00e1ticamente much\u00edsima informaci\u00f3n biol\u00f3gica. Para ser exactos hemos estudiado un mill\u00f3n de cambios gen\u00e9ticos en relaci\u00f3n a medio mill\u00f3n de cambios epigen\u00e9ticos en 3.500 tumores que representan los trece canceres m\u00e1s comunes, entre ellos el c\u00e1ncer de mama, pulm\u00f3n y colon\u201d comenta Manel Esteller. <\/p>\n Estos an\u00e1lisis, llamados GWAS, han encontrado un problema frecuente: muchas veces el diminuto cambio gen\u00e9tico observado no parece tener ninguna actividad o funci\u00f3n que explique porque se asocia a m\u00e1s c\u00e1ncer.<\/p>\n","protected":false},"author":6,"featured_media":18831,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center 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\n\u201cHemos observado en un 25% de casos polimorfismos gen\u00e9ticos asociados a un incremento del c\u00e1ncer, pero que no alteraban directamente al gen, lo que provocaban era un cambio de metilaci\u00f3n del ADN; es decir apagaban el gen sin romperlo. Estos resultados permiten a\u00f1adir los cambios epigen\u00e9ticos como otro factor clave a considerar en la herencia del c\u00e1ncer y la contribuci\u00f3n del componente familiar a la enfermedad\u201d concluye Esteller.<\/p>\n
\nReferencia del art\u00edculo<\/strong>
\n<\/b><\/strong> Heyn H, Sayols S, Moutinho C, Vidal E, Sanchez-Mut JV, Stefansson OA, Nadal E, Moran S, Eyfjord JE, Gonzalez-Suarez E, Pujana MA, Esteller M. Linkage of DNA Methylation Quantitative Trait Loci to Human Cancer Risk. Cell Reports<\/em>, DOI: 10.1016\/j.celrep.2014.03.016, 2014.<\/b><\/b><\/b><\/b><\/b><\/b><\/b><\/p>\n","protected":false},"excerpt":{"rendered":"