ABSTRACT
The contribution of BRCA1 and BRCA2 to breast cancer incidence in Cuba has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Cuba, and to identify possible Cuban founder mutations, we conducted a study of unselected breast cancer patients from Havana, Cuba. We enrolled 336 women with breast cancer from a large public hospital in the city. A family history of cancer was obtained from each patient and a blood sample was processed for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. We were able to successfully complete testing on samples from 307 women. Among these, eight mutations were identified (seven in BRCA2 and one in BRCA1) representing 2.6% of the total, including 10% of familial cases and 10% of cases under age forty. One BRCA2 mutation (c.3394C > T) was found in two women, but no clear example of a founder mutation was identified. In summary, BRCA1 and BRCA2 mutations are not uncommon in Cuban women with breast cancer, but the absence of founder mutations precludes the development of a rapid and inexpensive clinical screening test.
Subject(s)
BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/epidemiology , Breast Neoplasms/genetics , Mutation , Adult , Aged , Breast Neoplasms/diagnosis , Cuba/epidemiology , Epidemiologic Studies , Female , Humans , Incidence , Medical History Taking , Middle Aged , Risk FactorsABSTRACT
Tanto el diagnóstico del cáncer como su terapéutica están determinados en alto grado por la especialización oncológica del centro hospitalario. En un análise de supervivencia poblacional de los casos de cáncer reportados al Registro Nacional de Cáncer de Cuba en 1982 se compararon las tasas de supervivencia a cinco años con las reportadas internacionalmente encontrándose que el cáncer de mama y de cuello de útero presentaban cifras inferiores en un 15 y 24 por ciento respectivamente. Se analizaron las curvas de supervivencia por etapas y total de estas dos localizaciones encontrándose diferencias estadísticamente significativas en relación a la especialización oncológica. Las tasas de ambas localizaciónes obtenidas por las pacientes tratadas en hospitales oncológicos resultaron de 62 por ciento para el cáncer de mama y de 50 por ciento para el de cuello de útero, siendo comparables con las cifras internacionales
