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Variación del riesgo de cáncer de mama entre las portadoras de BRCA1/2

Colin B Begg¹, Robert W Haile, Ake Borg

¹Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA. beggc@mskcc.org

|January 10, 2008

Resumen

El riesgo de cáncer de mama varía significativamente entre los portadores de las mutaciones BRCA1 y BRCA2. Esta variación existe incluso después de tener en cuenta los factores observables, lo que pone de relieve la necesidad de una evaluación de riesgo personalizada en el cáncer de mama hereditario.

Área de la Ciencia:

Genética y Genómica.
Oncología Oncología.
Epidemiología La epidemiología.

Sus antecedentes:

Las mutaciones BRCA1 y BRCA2 aumentan significativamente el riesgo de cáncer de mama.
Estudios anteriores no han explorado completamente la variabilidad de este riesgo entre los transportistas.

Objetivo del estudio:

Para cuantificar el grado de variación del riesgo de cáncer de mama en portadores de mutaciones BRCA1 y BRCA2.
Investigar si las características observables y no observables influyen en esta variación de riesgo.

Principales métodos:

Se utilizaron datos del estudio Women's Environmental Cancer and Radiation Epidemiology (WECARE) sobre el cáncer y la radiación en el medio ambiente de las mujeres.
Se analizó la incidencia de cáncer de mama en parientes femeninas de primer grado de probantes con mutaciones BRCA1/BRCA2.
Participantes genotipados para mutaciones en BRCA1 y BRCA2 y riesgo comparado basado en las características del proband y factores específicos de la familia.

Principales resultados:

Se identificó al 5,2% de las participantes con cáncer de mama unilateral y al 15,3% de las participantes con cáncer de mama contralateral como portadoras de la mutación BRCA.
Se encontró una asociación significativa entre la edad de prueba más joven en el momento del diagnóstico y el aumento del riesgo relativo de cáncer de mama (P = .04).
Se observaron diferencias significativas en el riesgo de cáncer de mama entre las familias portadoras, incluso después de ajustar las características conocidas.

Conclusiones:

El riesgo de cáncer de mama es muy variable entre las personas portadoras de mutaciones BRCA1 y BRCA2.
Esta variabilidad subraya la complejidad de la evaluación del riesgo de cáncer de mama hereditario.

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