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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2006, Número 3

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Rev Invest Clin 2006; 58 (3)


Variaciones genéticas del gen supresor de tumores TP53: relevancia y estrategias de análisis

Rangel-López A, Piña-Sánchez P, Salcedo M

Idioma: Español
Referencias bibliográficas: 59
Paginas: 254-264
Archivo PDF: 298.55 Kb.


RESUMEN

El cáncer continúa siendo una importante causa de muerte en la sociedad moderna. Los procesos en el desarrollo del cáncer son muy complejos e involucran alteraciones en genes implicados en la proliferación celular. Entre estas alteraciones o variaciones genéticas se incluyen las mutaciones puntuales, la susceptibilidad genética por polimorfismos de un solo nucleótido o “SNP”, así como la pérdida o alteración en la función de genes supresores de tumores. El gen supresor de tumores TP53 es uno de los genes más importantes y estudiados en la genética del cáncer, ya que se encuentra mutado en más del 50% de todos los tipos de cáncer humano y codifica para una proteína multifuncional cuya deficiencia contribuye a la inestabilidad genómica que conduce a la acumulación de mutaciones y a la aceleración en el desarrollo del tumor. Es importante el estudio de dichas alteraciones genéticas presentes en las células cancerosas que puedan ser detectadas a nivel de un solo nucleótido, por su implicación en la pérdida o alteración en la función del gen TP53, así como por la relevancia clínica que ellas puedan tener al ser asociadas a la respuesta de una terapia particular o al pronóstico. Debido a la extensión de este trabajo solamente revisaremos dos de las variaciones genéticas importantes en este gen: las mutaciones puntuales y los SNP, haciendo énfasis en algunas características moleculares que son relevantes en el diseño de estrategias de análisis para su detección.


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