BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

Male breast cancer (MBC) is a rare disease that represents <1% of all breast cancers (BCs). We analyze the results of a multicenter study performed in Spanish familial MBC including family history of hereditary breast and ovarian cancer syndrome (HBOCS) and clinicopathological features. We also study the relationship between BRCA1/BRCA2 mutational status in male relatives affected with cancer (MAC) and, family history and tumor types. The study included 312 men index cases with family history of HBOCS and 61 MAC BRCA1/2 mutation-carriers. Family history, histological grade (HG), clinicopathological and immunohistochemistry data were collected. BRCA1/2 mutation analyses were performed by direct sequencing or screening methods and the large rearrangements by multiplex ligation dependent probe amplification. We found 49 mutation-carriers (15.7%), 95.9% with BRCA2 mutations. BRCA2 mutation-carriers were associated with families with at least one MBC and one BC in female (type II; p = 0.05). Strong association were found between the presence of pathogenic mutations in MBCs and the advanced HG (p = 0.003). c.658_659delTG, c.2808_2811delACAA, c.6275_6276delTT and c.9026_9030delATCAT were the most prevalent mutations. In 61 MAC we found 20 mutations in BRCA1 and 41 in BRCA2. For MAC we show that mutational status was differentially associated with family history (p = 0.018) and tumor type, being BRCA2 mutations linked with BC and prostatic cancer (p = 0.018). MBC caused by BRCA1/2 mutations define two types of MBCs. The most frequent caused by BRCA2 mutation linked to type II families and the rarest one attributed to BRCA1 mutation. Tumor associated with MAC suggest that only BRCA2 mutations have to do with a specific type of cancer (BC and prostatic cancer); but the linkage to tumors is questionable for BRCA1 mutations .

Estrés relacionado con el trabajo y exposición laboral en enfermeras de la Comunidad de Castilla y León / Work-related stress and occupational exposure in nurses from the Autonomous Community of Castilla y León (Spain)

Objetivo. Conocer el nivel de estrés relacionado con el trabajo en una muestra de enfermeras e identificar los factores que se asocian con su incremento. Método. Estudio observacional transversal en una muestra de 1.656 enfermeras seleccionadas por muestreo aleatorio del total de censadas en el Consejo de Colegios Profesionales de la Comunidad de Castilla y León. La información se recogió mediante envíos postales y llamadas telefónicas durante los años 2002-2003 del cuestionario de Contenido de Trabajo y de un cuestionario específico (datos sociodemográficos, historia laboral, historia médica y estilos de vida). Se realizó un análisis descriptivo y se ajustaron modelos de regresión logística. Resultados. El porcentaje de respuesta fue del 45,4% (680 enfermeras) y osciló entre un 68 y un 33% entre las 9 provincias. El 49% manifestó tener altas demandas en el trabajo y el 22% falta de control. El análisis multivariante mostró que las variables que se asociaron con el estrés fueron: el esfuerzo físico moderado y muy intenso (odds ratio [OR] = 4,00; intervalo de confianza [IC] del 95%, 1,94-8,22), trabajar en los servicios de quirófano (OR = 3,67; IC del 95%, 1,23-10,94), unidades de cuidados intensivos y urgencias (OR = 3,25; IC del 95%, 1,41-7,49) y la falta de apoyo de los compañeros (OR = 2,77; IC del 95%, 1,58-4,87) y de los supervisores (OR = 1,88; IC del 95%, 1,21-2,94). Conclusiones. El estrés relacionado con el trabajo se asoció al esfuerzo físico y a los servicios de quirófano y unidades de cuidados intensivos y urgencias. En cambio, no se asoció con la falta de control. Finalmente, la falta de apoyo social también se asoció con el estrés laboral

Objective. To determine work-related stress in a sample of nurses and to identify associated factors. Method. We performed an observational, cross-sectional study of 1656 nurses randomly selected from those registered in the Council of Professional Colleges of the Autonomous Community of Castilla y León. Information was collected through mailing and telephone calls from 2002-2003 using the Job Content Questionnaire and a specific questionnaire (socio-demographic data, occupational records, medical records, and lifestyles). A descriptive analysis and adjustment of logistic regression models were performed. Results. The response rate was 45.4% (680 nurses), ranging between 68% and 33% among the 9 provinces. Forty-nine percent reported high job demands and 22% reported loss of control. Multivariate analysis identified the following variables as stress-related: moderate and very intense physical effort (odds ratio [OR] = 4.00; 95% confidence interval [CI], 1.94-8.22), working in operating rooms (OR = 3.67; 95% CI, 1.23-10.94), intensive care units and emergency departments (OR = 3.25; 95% CI, 1.41-7.49), and lack of support from workmates (OR = 2.77; 95% CI, 1.58-4.87) and supervisors (OR = 1.88; 95% CI, 1.21-2.94). Conclusions. Work-related stress was associated with physical effort and working in the operating room, intensive care units, or emergency department. It was not associated with low control. Finally, lack of social support was also associated with work stress