3 years ago

Portadoras de mutaciones en BRCA1 y 2 en familias de alto riesgo del área de Ciudad Real (España): prevalencia mutacional y características clínico-patológicas del cáncer de mama y ovario

Maria Del Carmen Manzanares Campillo, Virginia Muñoz Atienza, Eva Maria Sánchez Tapia, Jesús Martín Fernández

Publication date: April–June 2018

Source: Revista de Senología y Patología Mamaria, Volume 31, Issue 2

Author(s): Maria del Carmen Manzanares Campillo, Virginia Muñoz Atienza, Eva Maria Sánchez Tapia, Jesús Martín Fernández


Determinar la prevalencia mutacional en BRCA1 y 2 de mujeres afectas por cáncer de mama/ovario en el área de Ciudad Real y describir las características clinicopatológicas de dichas neoplasias.

Pacientes y métodos

Estudio descriptivo. Se evaluaron 111 pacientes de familias de alto riesgo y se analizaron los antecedentes oncológicos, familiares y las mutaciones halladas en BRCA1 y 2.


La prevalencia de mutaciones patogénicas en BRCA fue del 21,6% (16 en BRCA2 y 8 en BRCA1). En las portadoras de mutaciones en BRCA1 predominó el cáncer de mama: 10 casos (90,9%), tipo ductal infiltrante: 8 (72,7%), estadio II: 6 (54,5%), luminal A: 4 (36,4%), triple negativo: 4 (36,4%) y grado histológico 2: 3 (27,3%) y 3: 3 (27,3%). Las portadoras de mutaciones en BRCA2 desarrollaron cáncer de mama en 16 casos (80%), tipo ductal infiltrante: 11 (55%), estadio II: 11 (55%), luminal A: 10 (50%) y grado histológico 2: 5 (25%).


En nuestro análisis, la prevalencia de mutaciones en BRCA2 fue superior a la registrada en BRCA1, en correspondencia con algunos estudios previos nacionales. Las características clinicopatológicas de los cánceres de mama/ovario en las portadoras de estas mutaciones fueron similares al perfil descrito en la literatura.


To determine the mutational prevalence in BRCA1 and 2 among women with breast/ovarian cancer in Ciudad Real and to describe the clinical-pathological characteristics of these neoplasms.

Patients and methods

Descriptive study. A total of 111 patients from high-risk families were evaluated and the oncological history, family history, and BRCA1 and 2 mutations found were analysed.


The prevalence of pathogenic mutations in BRCA was 21.6% (16 in BRCA2 and 8 in BRCA1). In BRCA1 mutations, breast cancer was predominant: 10 cases (90.9%), infiltrating ductal type: 8 (72.7%), stage II: 6 (54.5%), luminal A: 4 (36.4%), triple negative: 4 (36.4%) and histological grade 2: 3 (27.3%) and 3: 3 (27.3%).

Among BRCA2 mutation carriers, 16 (80%) developed breast cancer: infiltrating ductal type: 11 (55%), stage II: 11 (55%), luminal A: 50% (10) and histological grade 2: 5 (25%).


In our analysis, the prevalence of mutations was higher in BRCA2 than in BRCA1, in agreement with some previous national studies. The clinical-pathological characteristics of breast/ovarian cancer in the carriers of these mutations were similar to the profile described in the literature.

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