RESUMEN
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.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Mutación , Adulto , Anciano , Neoplasias de la Mama/diagnóstico , Cuba/epidemiología , Estudios Epidemiológicos , Femenino , Humanos , Incidencia , Anamnesis , Persona de Mediana Edad , Factores de RiesgoRESUMEN
Se realizaron espermogramas, dosificaciones de hormona foliculoestimulante (FSH), y biopsia testicular a 55 pacientes infértiles los cuales se dividieron en tres grupos, según la concentración de espermatozoides por mL (normozoospérmicos, n=19; con oligoespermia severa, n=15 y con azoospermia n=21); sólo se realizó biopsia a los casos con azopspermia. Se encontraron valores azoospérmico (14ñ9 mU/l) mientras que en los pacientes normo y oligospermicos fueron de 3,6ñ2,2 y 4,3ñ2 mU/l respectivamente. En relación con los hallazgos histopatológicos en la totalidad de los casos se demostraron alteración y predominó como tipo de lesión la de hipoespermatogénesis severa
