RESUMEN
BRCA1 and BRCA2 genes have been recognized to be responsible for 20-30% of hereditary breast cancers and approximately 50% of familial breast and ovarian cancers. Therefore, the demand for BRCA1 and BRCA2 mutation screening is rapidly increasing as their identification will affect medical management of people at increased risk. Because of high costs involved in analysis of BRCA1 and 2 genes, contribution of different mutation types in BRCA1 and 2 and not knowing who should be tested has hampered wide spread use of molecular testing of high -risk families. There is a need to identify the genes and types of mutations involved in breast or ovarian cancers at different age of onsets and polymorphism and polymorphic variations in our population. Twenty-seven patients with either early onset breast cancer [at age= 35 years] or a personal and/or family history of breast or ovarian cancer and 50 control subjects participated in this study. After collecting blood samples and extracting DNA, BRCA1 and BRCA2 genes were fully sequenced. Thirteen missense substitutions in BRCA1 and BRCA2 [9 and 4, respectively] were revealed. Two nucleotide substitutions were novel [Gly1140Ser in BRCA1 and Glu1391Gly in BRCA2]. The Glu1038Pro and Gly1140Ser were found in large series of breast and ovarian cancer and matched controls. Some nucleotide substitutions were seen only in single families and other in several. In other cases, mutations were seen in both BRCA1 and BRCA2 genes. Clinical significance of these mutations was evaluated comparing with normal controls
Asunto(s)
Humanos , Femenino , Neoplasias Ováricas/genética , Genes BRCA1 , Genes BRCA2 , FamiliaRESUMEN
Blood coagulation and fibrinolysis are two main components of homeostasis. Lack of balance between activities of these systems and their controlling mechanisms can lead to bleeding and clot formation. There are controversial reports about the effect of physical activities on these systems. The effect of aerobic exercise on coagulation and fibrinolytic factors in inactive old men has not been determined in the previous studies and these factors have direct relationship with cardio vascular problems. In this study we evaluated the effect of this kind of exercise on some of the factors of these systems. This was an experimental study. Sampling method was convenient. For this purpose, 16 male volunteers with age range of 60-70 years were divided randomly into 2 groups: control and aerobic groups [n1=n2=8]. Aerobic group performed physical exercise with ergometer in the first 2 weeks with 65%HRmax intensity for 30 minutes, and the next 2 weeks with 75% HRmax intensity for 35 minutes. Blood samples were taken 24 hours before the first, and 24 hours after the last training sessions. Fibrinogen, prothrombin time [PT], partial thromboplastin time [PTT], platelet counts and D-dimer were measured in both groups before and after training. Differences between the above mentioned factors in each person, before and after training, and between test and control groups were analyzed by means of t-test. Data analyses showed that aerobic training induced significant decrease in fibrinogen, PTT, PT and platelets counts [p<0.05], and significant increase in D-dimer [p<0.05]. These changes were not observed in the control group [p>0.05]. According to the findings of this study we concluded that 12 sessions of aerobic training can decrease coagulation factors and increase fibrinolytic factors of the blood and can prevent vascular thrombosis