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La secuenciación exómica identifica PALB2 como un gen de susceptibilidad al cáncer de páncreas

Siân Jones¹, Ralph H Hruban, Mihoko Kamiyama

¹Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA.

Science (New York, N.Y.)

|March 7, 2009

Resumen

Los investigadores identificaron un nuevo gen, el socio y localizador de BRCA2 (PALB2), vinculado al cáncer pancreático hereditario. Este descubrimiento pone de relieve la importancia de la secuenciación genética integral en el diagnóstico de enfermedades hereditarias raras.

Área de la Ciencia:

Genética La genética.
Oncología Oncología.
Biología Molecular Biología Molecular

Sus antecedentes:

El cáncer de páncreas familiar (CCP) es una enfermedad rara pero agresiva con un fuerte componente hereditario.
La identificación de mutaciones genéticas específicas responsables de la FPC es crucial para el diagnóstico, la evaluación del riesgo y las posibles estrategias terapéuticas.
Investigaciones anteriores han implicado a varios genes en la FPC, pero el panorama genético sigue siendo incompletamente entendido.

Objetivo del estudio:

Para identificar la causa genética de la predisposición hereditaria en un paciente con cáncer de páncreas familiar.
Validar el papel del gen identificado como un factor de susceptibilidad para el cáncer de páncreas en una cohorte más grande.

Principales métodos:

Se realizó la secuenciación del exoma completo en un paciente diagnosticado con cáncer de páncreas familiar.
Se analizó el ADN de la línea germinal de 96 pacientes familiares adicionales con cáncer de páncreas en busca de mutaciones en el gen candidato.
Se consideró la asociación funcional del gen identificado con BRCA2.

Principales resultados:

Se identificó una mutación de truncamiento de la línea germinal en el gen PALB2 como la probable causa del cáncer de páncreas hereditario en el paciente inicial.
Se encontraron tres mutaciones distintivas adicionales de truncamiento de proteínas en PALB2 en 96 pacientes familiares con cáncer de páncreas, lo que confirma su papel.
PALB2 es un socio de unión conocido de BRCA2, un gen previamente asociado con cánceres de mama y de ovario.

Conclusiones:

PALB2 es un gen de susceptibilidad para el cáncer de páncreas, que contribuye a las formas hereditarias de la enfermedad.
La secuenciación integral e imparcial de genes codificadores de proteínas es una estrategia efectiva para identificar nuevos genes causantes de enfermedades.
Estos hallazgos amplían el espectro de los síndromes de cáncer hereditario asociados con mutaciones PALB2.

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