ABSTRACT
The aim of the present study was to outline BRCA 1 gene mutations and to highlight its clinical implications in patients with breast cancer. This study included 84 patients with breast cancer who were treated in the period from January 1997 to May 2001 in South Valley University Hospital and South Egypt Cancer Institute, Assiut University. Definitive treatment including surgery, chemotherapy, radiotherapy, and hormonal therapy, were adopted for patients according to the stage of the disease. Follow-up was performed to assess relapse and overall survival at 36 months, according to Kaplan-Meier method. Three genetic tests were carried out to outline and detect genetic polymorphism of BRCA 1 gene mutations. The first two assays were conducted with DNA [BRCA 1 and RAPDs assays]. The third test was serum protein profile. The results showed that BRCA 1 mutations were positive in 63% of breast cancer patients and were negative in the remaining 37%. All the patients had sporadic breast cancer. BRCA 1 mutations were positive in 2% of the control group. Genetic polymorphism revealed by RAPDs markers showed a strong correlation between BRCA l mutations and incidence of some polymorphic bands of OP6 [533 and 825] [88 and 76%, respectively]. There was a statistically significant correlation between BRCA 1 mutations and the commonest clinico-pathological features including premenopausal status, stages II and III, infiltrating ductal carcinoma, grade II and overall survival rate. In conclusion, BRCA 1 mutations may prove to be important etiological factors in sporadic breast cancer patients. BRCA l mutations correlate with the commonest clinico-pathological features and outcome. Other genetic polymorphisms like RAPDs fingerprint may affect the penetrance of RRCA 1 mutations