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

Producción CientíficaMale 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

Design of a bucket elevator for the collection of shot in a shot blasting process of SERVIMET S.A.S.

Servimet S.A.S planea diseñar y fabricar una línea automatizada de granallado (shot blasting) para llevar a cabo la limpieza superficial de distintas piezas metálicas usando granallas de acero como reemplazo a un proceso de arenado (sandblasting) con el fin de incrementar los niveles de eficiencia y reducir los impactos que éste tendría en la salud y el medio ambiente. Se estima que alrededor del 80% de la arena es transformada en polvo en su primera aplicación y debido a la alta fragilidad de esta, se obtiene una gran cantidad de polución en el aire como producto de su fragmentación durante el proceso, produciendo polvos muy finos que dejan expuesto en el ambiente un compuesto conocido como sílice libre el cual puede causar enfermedades en las personas que lleguen a aspirarlo. El diseño general de la línea de granallado ha sido dividido en 4 etapas o sub proyectos asignados a diferentes grupos, los cuales son: -Diseño de un sistema de rieles para transporte de las piezas metálicas. -Diseño de cabina de granallado/shot blasting con turbinas. -Sistema de recuperación de material de proceso con elevador de cangilones. -Sistema colector de polvos y disposición de desechos resultantes del proceso de granallado/shot blasting. Este trabajo está enfocado en el análisis, diseño e implementación del sistema de recuperación de material, haciendo uso de un mecanismo transportador helicoidal ubicado en la parte inferior de la cabina de granallado, con el fin de transportar el material hasta un depósito de acumulación en el que será recogido por el elevador de cangilones para ser reinsertado al ciclo de operación. Con el desarrollo de este proyecto concluimos que el rendimiento del proceso general depende de una completa integración de todos los sistemas presentes, teniendo en cuenta factores como la velocidad de operación, capacidad de carga y la selección adecuada de materiales.Servimet S.A.S. plans to design and manufacture an automated shot blasting line to carry out the surface cleaning of different metal parts using steel shot as a replacement for a sandblasting process in order to increase efficiency levels and reduce the impacts that this would have on health and the environment. It is estimated that around 80% of the sand is transformed into powder in its first application and due to its high fragility, a large amount of air pollution is obtained as a result of its fragmentation during the process, producing very fine dusts that leave exposed in the environment a compound known as free silica, which can cause diseases in people who inhale it. The overall design of the shot blasting line has been divided into 4 stages or sub-projects assigned to different groups, which are: -Design of a rail system for transporting the metal parts. -Design of a shot blasting cabin with turbines. -Process material recovery system with bucket elevator. -Dust collection system and disposal of waste resulting from the shot blasting process. This work is focused on the analysis, design and implementation of the material recovery system, making use of a helical conveyor mechanism located at the bottom of the blasting cabin, in order to transport the material to an accumulation tank where it will be collected by the bucket elevator to be reinserted to the operation cycle. With the development of this project we concluded that the performance of the overall process depends on a complete integration of all the systems present, taking into account factors such as operating speed, load capacity and proper selection of materials

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

Producción CientíficaMale 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