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Las mutaciones CDH1 fundadoras y recurrentes en familias con cáncer gástrico difuso hereditario
Pardeep Kaurah1, Andrée MacMillan, Niki Boyd
1Hereditary Cancer Program, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
JAMA
|June 5, 2007
Resumen
Las mutaciones recurrentes de CDH1 en familias hereditarias de cáncer gástrico difuso surgen tanto de eventos nuevos como de ascendencia compartida. Una mutación fundadora de Terranova está fuertemente indicada, lo que afecta a los riesgos de cáncer gástrico y de mama.
Área de la Ciencia:
- Genética y Genómica.
- Biología del cáncer Biología del cáncer.
- Epidemiología La epidemiología.
Sus antecedentes:
- El cáncer gástrico difuso hereditario (HDGC) está relacionado con mutaciones de la línea germinal en el gen de la caderina epitelial (CDH1).
- HDGC aumenta significativamente el riesgo de cáncer gástrico difuso y cáncer de mama lobular.
Objetivo del estudio:
- Investigar si las mutaciones recurrentes de la línea germinal CDH1 son el resultado de eventos mutacionales independientes o ascendencia común.
- Para identificar los orígenes de las mutaciones CDH1 en familias con HDGC.
Principales métodos:
- Análisis de 38 familias con cáncer gástrico difuso hereditario para mutaciones CDH1.
- El análisis del haplotipo se realizó en 14 familias (7 de este estudio, 7 reportadas anteriormente) para evaluar la ascendencia común de las mutaciones recurrentes.
Principales resultados:
- Se encontraron trece mutaciones CDH1, incluidas 6 nuevas, en 15 familias (tasa de detección del 40%).
- Las mutaciones específicas (1137G>A, 1901C>T, 2064-2065delTG) mostraron evidencia de orígenes comunes e independientes.
- Se identificó una mutación fundadora (2398delC) en cuatro familias originarias de Terranova, con riesgos acumulados significativos de cáncer gástrico (hombres 40%, mujeres 63%) y de mama (mujeres 52%) a los 75 años.
Conclusiones:
- Las mutaciones recurrentes de CDH1 en las familias HDGC se atribuyen tanto a eventos independientes como a una ascendencia compartida.
- La evidencia sólida apoya una mutación fundadora originaria de Terranova, que influye en los riesgos de cáncer en las familias afectadas.
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