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El cáncer de mama es el tumor maligno más frecuente en mujeres y la primera causa de muerte en países desarrollados. Su incidencia está en aumento pero su diagnóstico precoz ha logrado disminuir la mortalidad. En algunas ocasiones, el cáncer de mama obedece a mutaciones genéticas heredadas. El tejido tumoral de los cánceres de mama relacionado a mutaciones en la línea germinal requiere un detallado estudio histológico y molecular que determinen las principales características del tumor a fin de establecer riesgo, manejo, pronóstico y sobrevida del paciente. Los genes mayormente implicados a mutaciones en la línea germinal son el BRCA1 y BRCA2. Aquellos tumores asociados a estas mutaciones presentan características tumorales más agresivas en relación a quienes no portan una mutación, lo que se relaciona a un peor pronóstico.
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