[Analysis of mutations in genes BRCA1 and BRCA2 among patients with breast and ovarian cancer in northern Portugal and Galicia]. / Análisis de mutaciones en los genes BRCA1 y BRCA2 en pacientes con cáncer de mama y ovario del norte de Portugal y Galicia.

OBJECTIVE: To detect mutations in the BRCA1 and BRCA2 genes by means of the protein truncation test (PTT) in a population in northern Portugal and Galicia with breast and ovarian cancer. DESIGN: Prospective study. SETTING: Patients in northern Portugal and Galicia with family history of breast and/or ovarian cancer.Patients. A total of 76 women with family history of breast cancer according to the BCLC criteria (Breast Cancer Linkage Consortium) were studied at IPATIMUP. MAIN RESULTS: Five cases (6.5%) with changes in the normal sequence in genes BRCA1 and BRCA2 were identified; three of these mutations occurred in the gene BRCA1 and the other two in the gene BRCA2. Two out of the three mutations found in the gene BRCA1 were de novo mutations. Changes detected in the normal sequence in the gene BRCA2 were mutations reported for the first time among the study population, according to the information obtained through the BCIC database (Breast Cancer Information Core). CONCLUSIONS: This was the first study in detecting individuals carrying mutations in the susceptibility breast cancer genes BRCA1 and BRCA2 among the population of northern Portugal and Galicia.

Análisis de mutaciones en los genes BRCA1 y BRCA2 en pacientes con cáncer de mama y ovario del norte de Portugal y Galicia / Analysis of mutations in genes BRCA1 and BRCA2 among patients with breast and ovarian cancer in northern Portugal and Galicia

Objetivo. Detectar mutaciones en los genes BRCA1 y BRCA2 mediante la prueba de truncamiento de proteínas (protein truncation test, PTT) en una población del norte de Portugal y Galicia con cáncer de mama y ovario. Diseño. Estudio prospectivo. Localización. Pacientes del norte de Portugal y Galicia con historia familiar de cáncer de mama y/u ovario. Pacientes. Se analizaron en el IPATIMUP 76 mujeres con historia familiar de cáncer de mama de acuerdo con los criterios del BCLC (Breast Cancer Linkage Consortium). Resultados principales. Se identificaron cinco casos (6,5 por ciento) con alteraciones de la secuencia normal de los genes BRCA1 y BRCA2, siendo tres de estas mutaciones en el gen BRCA1 y las otras dos en el gen BRCA2. De las tres mutaciones encontradas en el gen BRCA1, dos son mutaciones de novo. Las alteraciones detectadas en la secuencia normal del gen BRCA2 son mutaciones descritas por primera vez para la población en estudio, de acuerdo con la información obtenida a través de la base de datos del BCIC (Breast Cancer Information Core). Conclusiones. Este estudio permitió identificar por primera vez en la población del norte de Portugal y Galicia individuos portadores de mutaciones en los genes de susceptibilidad para el cáncer de mama BRCA1 y BRCA2. (AU)

Carcinoma papilar dimórfico infiltrante de mama / Dimorphic papillary carcinoma of the breast

El carcinoma papilar dimórfico (CPD) de la mama, caracterizado por una doble población de células epiteliales malignas, es una entidad descrita en 1994 que puede ser causa de falsos negativos en lesiones papilares de la mama. Presentamos el caso de una mujer de 77 años con el diagnóstico de CPD infiltrante de la mama, entidad definida morfológicamente por una delgada banda de células epiteliales columnares sobre la superficie de anchas papilas anastomosadas, que aparecen rellenas de una segunda población de células cuboidales con abundante citoplasma claro o débilmente eosinófilo. Los núcleos de ambas células son idénticos. (AU)

Male reproductive condition is the limiting factor of efficiency in the male effect during seasonal anestrus in female goats.

Two experiments were conducted to determine whether the failure of males to induce sexual activity in goats during seasonal anestrus is due to unresponsiveness of females to male stimulus or insufficient stimulation from males. In the first study, one group of males (sexually inactive, SI; n = 4) was kept under natural photoperiod while the other (sexually active, SA; n = 4) was subjected to 2.5 mo of long days (16L:8D) and received 2 s.c. implants of melatonin. Two mo later, 2 different flocks of anovulatory goats previously separated from bucks were exposed to either SI (n = 34) or SA (n = 40) bucks. Progesterone assays and estrous behavior were used to determine ovarian and behavioral responses of the females to teasing. Of the goats exposed to SI males, only 2 ovulated, and none showed estrous behavior during the 35 days of the study. In contrast, all females (40 of 40) in contact with SA males ovulated and showed at least one estrous behavior during the first 11 days following male introduction (P < 0.001). Overall, 38 of 40 females stimulated with SA bucks were diagnosed pregnant at Day 35, according to progesterone assay (versus 0 in SI-treated group: P < 0.001). To control for a possible difference of responsiveness between flocks, the experiment was repeated 1 yr later using a single flock of goats divided into 2 groups. Again, over the first 14 days, 1 of 33 goats showed estrous behavior in the SI-treated group versus 27 of 33 in the SA-treated group (P < 0.001). Therefore, treating bucks with long days and melatonin increased their teasing capacity to induce sexual activity in females during anestrus. These results indicate that the absence of response to teasing at this time of the year is not due to female unresponsiveness, but to insufficient stimulation from the male.

Osteoblastoma and osteoid osteoma. Clinical and morphological features of 162 cases.

A study of 46 osteoblastomas and 91 osteoid osteomas, selected from a total of 162 cases proceeding from 15 Spanish Hospitals was done to establish epidemiological data on clinico-pathological parameters and to compare them with the findings of other authors. A comparative study between both tumors is done and emphasis is put on the discussion of aggressive osteoblastoma.

Evaluation of the efficacy of oral methotrexate in the prevention of recurrence of superficial bladder tumours.

Twenty-four patients with previously untreated T1 transitional cell carcinoma of the bladder were treated with oral methotrexate 50 mg weekly for 18 months. Thirteen developed tumour recurrences (recurrence index 11 per 100 patient months at risk) and in one-third of the patients treatment was stopped because of unwanted side effects. These results are no better than our previous experience with intravesical Adriamycin, thiotepa or cisplatin.