Enfermedad heredada

HANNOVER, ALEMANIA – El cáncer de mama es una de las enfermedades más amenazadoras que afecta aproximadamente a una de cada diez mujeres en el mundo occidental. Si se toma la historia familiar de 100 mujeres sanas, se puede encontrar al menos un pariente de primer grado afectado en hasta 15 de ellas.

De hecho, las investigaciones han demostrado que el riesgo de sufrir cáncer de mama aproximadamente se duplica en aquellas mujeres que tienen una historia familiar de cáncer de mama. En 1994-1995, se identificaron los genes humanos BRCA1 y BRCA2 como los principales culpables. Decenas de sus mutaciones están asociadas con un mayor riesgo de cáncer de mama y de ovario hereditario. Las mujeres que tienen un gen BRCA1 o BRCA2 anormal tienen un riesgo de por vida de hasta 85% de sufrir un cáncer de mama, mientras que el mayor riesgo de sufrir cáncer de ovario es de aproximadamente 55% en el caso de aquellas mujeres con mutaciones del gen BRCA1 y de alrededor de 25% para las mujeres con mutaciones del gen BRCA2. Más recientemente, estudios extensivos que analizaron los efectos de las variaciones de un nucleótido simple del ADN genómico, llamadas polimorfismos de nucleótido simple (SNP, por su sigla en inglés), en el riesgo de cáncer de mama de portadores de mutaciones de los genes BRCA1/BRCA2 han identificado el llamado SNP modificador que puede disminuir o aumentar el riesgo de por vida de un individuo.

También hemos aprendido que sólo 20-40% de los cánceres de mama que se generan en familias provienen de mutaciones de línea germinal del BRCA1 o BRCA2 –las alteraciones genéticas que están presentes desde el nacimiento en cada célula del cuerpo y que se pueden transmitir a los descendientes-. También se sabe que un mayor riesgo de cáncer de mama está asociado con varios síndromes hereditarios, como el síndrome Li-Fraumeni, una enfermedad que también está asociada con la aparición en la niñez de múltiples enfermedades, como sarcomas de tejidos blandos, leucemias y tumores cerebrales. Sin embargo, en la mayoría de los casos de cáncer de mama familiar, la predisposición genética sigue siendo elusiva. De hecho, no se han encontrado otros genes cuyas mutaciones estén asociadas con altos riesgos de por vida de desarrollar cáncer de mama.

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