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IDIBELL (Instituto de Investigación Biomédica de Bellvitge)

IDIBELL (Instituto de Investigación Biomédica de Bellvitge)

Centro de investigación en medicina celular. El IDIBELL es un centro de investigación en medicina celular, donde la investigación básica de alto nivel está al servicio de preguntas clínicas relevantes y del desarrollo económico. El IDIBELL es una fundación creada el año 2004, a partir de la fusión de varias entidades de investigación, participado por el Hospital Universitario de Bellvitge, el Instituto Catalán de Oncología y la Universidad de Barcelona. El Instituto está situado en espacio Biopol'H. El año 2009 se convirtió en uno de los cinco primeros centros de investigación españoles acreditados como instituto de investigación sanitaria por el Instituto de Salud Carlos III. El Instituto de Investigación Biomédica de Bellvitge está situado en el municipio de L’Hospitalet de Llobregat, al sur de Barcelona. Sus instalaciones están distribuidas entre el Hospital Duran i Reynals, el Hospital Universitario de Bellvitge y los edificios del campus de la Universidad de Barcelona de Bellvitge, en el espacio Biopol. Un aspecto fundamental de la investigación del IDIBELL es su proximidad al enfermo. Por su situación y por la actividad asistencial diaria que muchos de ellos desarrollan, los investigadores del IDIBELL conocen los problemas que son realmente prioritarios y qué soluciones resultan efectivas en la práctica clínica diaria. Institut d'Investigació Biomédica de Bellvitge (IDIBELL). Hospital Duran i Reynals. 3a planta - Gran Via de l'Hospitalet, 199. 08908 Hospitalet de Llobregat. Barcelona - Spain. Tel +34 93 260 74 11. info@idibell.cat

Un nuevo marcador genético explica hasta el 1,4% de los casos de cáncer de colon hereditario

Fuente: IDIBELL | Publicado: 10-10-2017
Investigadores del grupo de Cáncer Hereditario del programa Oncobell del Instituto de Investigación Biomédica de Bellvitge (IDIBELL) – Programa de Cáncer Hereditario del Instituto Catalán de Oncología (ICO) han hallado un nuevo marcador genético que explicaría hasta 1,4% de los casos de cáncer de colon hereditario que no poseen las mutaciones actualmente asociadas a esta enfermedad.
Derechos: Mutaciones en BRF1 en cáncer de colon hereditario.
8 comentarios

Investigadores del grupo de Cáncer Hereditario del programa Oncobell del Instituto de Investigación Biomédica de Bellvitge (IDIBELL) – Programa de Cáncer Hereditario del Instituto Catalán de Oncología (ICO) han hallado un nuevo marcador genético que explicaría hasta 1,4% de los casos de cáncer de colon hereditario que no poseen las mutaciones actualmente asociadas a esta enfermedad. El hallazgo, posible gracias a las nuevas técnicas de secuenciación genética, ha contado con la colaboración de otros grupos de investigación a nivel nacional e internacional.



“Nuestro grupo se dedica principalmente a buscar marcadores genéticos de cáncer de colon hereditario”, explica la Dra. Laura Valle, líder del estudio. “En los últimos años, hemos secuenciado el exoma –todos los genes– de familias de alto riesgo, con varios miembros afectados por cáncer de colon, pero que no poseen las mutaciones genéticas actualmente asociadas con esta enfermedad. La finalidad es identificar los genes alterados que causan la agregación de cáncer en estas familias. De esta forma, los portadores de mutación podrán entrar en programas de seguimiento personalizados para detectar precozmente la aparición del cáncer, e incluso prevenirla”.


En el caso del trabajo publicado por la revista Gastroenterology, los investigadores singularizaron al gen BRF1 como gen de cáncer de colon familiar. “Este gen se ha visto mutado en tumores pero nunca se había asociado a riesgo de padecer cáncer”, comenta la Dra. Valle. La secuenciación de este gen en más de 500 muestras provenientes de familias con agregación familiar de cáncer sin alteraciones en genes de alto riesgo habituales reveló 11 variantes nuevas y poco frecuentes del gen. Tras varios estudios funcionales, los investigadores concluyeron que 7 de las 11 variantes podían relacionarse con el riesgo incrementado de desarrollar cáncer en las familias portadoras.


Así pues, 1,4% de los casos de cáncer de colon hereditario podrían explicarse por alteraciones en el gen BRF1. “Es un porcentaje bajo”, admite la investigadora del IDIBELL, “pero hemos llegado a un punto en que los “grandes genes” responsables del cáncer hereditario ya han sido descubiertos. Sólo nos quedan “genes minoritarios” por desvelar, pero evidentemente el impacto para los afectados es enorme”.


El hallazgo, una vez validado por otros grupos de investigación, podría permitir a los pacientes con mutaciones en este gen hacer un seguimiento clínico mucho más coherente con su genética. “En esta línea, seguimos trabajando en la identificación de mutaciones genéticas  y otro tipo de alteraciones no tan convencionales que nos permitan explicar cuantos más casos de cáncer hereditario mejor”, concluye Valle.


Referencia del artículo: *Bellido F, *Sowada N, *Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L. Association Between Germline Mutations in BRF1, a subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. Gastroenterology. 2017 Sep 11. pii: S0016-5085(17)36142-5. doi: 10.1053/j.gastro.2017.09.005. [Epub ahead of print]
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