Arbor, Vol 194, No 789 (2018)

Cuando el cáncer es una enfermedad rara


https://doi.org/10.3989/arbor.2018.789n3006

Miguel Urioste
Centro Nacional de Investigaciones Oncológicas (CNIO) - Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), España
orcid http://orcid.org/0000-0001-7583-7305

Javier Benítez
Centro Nacional de Investigaciones Oncológicas (CNIO) - Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), España
orcid http://orcid.org/0000-0002-0923-7202

Resumen


Heredar una alteración en un gen de susceptibilidad al cáncer supone vivir con una probabilidad alta de desarrollar la enfermedad, con frecuencia más de una vez, y por lo general a una edad temprana. Y también convivir con otros familiares, padres, hijos, o hermanos, que pasan por idénticas circunstancias. Existen 200 entidades clínicas diferentes en las que se hereda la susceptibilidad al cáncer y todas ellas tienen un enorme impacto personal y familiar. Aunque en su mayoría son poco frecuentes, en su conjunto representan una parte sustancial, en torno al 5%, del conjunto de cánceres, por lo que también su impacto poblacional resulta importante. La identificación de estas personas o familias y su derivación a unidades especializadas para que reciban un adecuado asesoramiento genético y posterior seguimiento clínico contribuye a aliviar a las familias, a la vez que evita costes sanitarios innecesarios restringiendo las medidas de seguimiento solo a aquellos que las necesitan. En este proceso el conocimiento de los genes responsables y el estudio genético de las familias en riesgo es un paso de importancia crucial. Las nuevas técnicas de secuenciación masiva del exoma han facilitado la búsqueda de nuevos genes responsables del cáncer familiar y de síndromes de susceptibilidad al cáncer que a corto plazo proporcionarán un espectro más correcto y completo de los mismos y a medio plazo permitirán una aplicación masiva en la práctica clínica.

Palabras clave


Clave: Cáncer familiar; cáncer hereditario; síndrome de susceptibilidad al cáncer; genes de alta susceptibilidad; secuenciación masiva del exoma; asesoramiento genético

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Referencias


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