BRCA1 [l85 del AG] mutation among Egyptian breast cancer female patients

This study was conducted to estimate the frequency of BRCA1 [1 85delAG] mutation among Egyptian female patients with breast cancer. Forty selected female patients with breast cancer, 80 of their female relatives and 10 healthy females as a control group were included in this study. Result: The age of onset of breast cancer was below 40 years in 25 [62.5%] patients and above 40 years in 15 [37.5%] patients.There were significant differences among the patients regarding the age at menarche before 13 years [P=0.011, P<0.05], onset of breast cancer [P=0.000, P<0.001], parity [P=0.000, P<0.001], first delivery before 30 years of age [P=0.04, P<0.05], breast feeding [P=0.002, P<0.05], and positive family history [P=0.000, P<0.001]. The frequency of BRCA1 [1 85delAG] mutation was found among 10% of the patients group .Eight percent of patients with early onset below 40 years and 13.5% of patients with onset after 40 years were heterozygotes for the mutation. Three percent of patients with unilateral breast cancer, 40% of patients with bilateral breast cancer and 50% of patients with breast ovarian cancer were carrying the mutation. Our results indicated that breast ovarian cancer and bilateral breast cancer patients were likely to have BRCA1 [l85delAG] mutation than in unilateral breast cancer

Cytogenetic study in juvenile myoclonic epileptic patients

The association of chromosomal imbalance and neurological abnormalities is well known. These chromosomal abnormalities may indicate that chromosomal sites where atypical neurological characteristics could be mapped. The purpose of our study was to search for cytogenetic abnormalities in patients with juvenile myoclonic epilepsy. This work was carried out on fifteen patients presenting to Epilepsy Centerof Neurology Department of Alexandria Main University Hospital. The age of juvenile myoclonic patients ranged from 16 to 38 years. Ten patients have myoclonic and generalized Tonic-Clonic seizures, 3 patients have myoclonic, absences, and generalized tonic-clonic seizures, and 2 patients have myoclonic seizures only. All patients were cytogenetically normal as all of them had normal karyotypes