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Study of BRCA2 Gene Mutations in Egyptian Females with Breast Cancer

Taher Abdel-Aziz , Naglaa Azab ,Nashwa M. Emara, Mosad M. Odah, I.M. El-deen

In this study we assesed the frequency of two founder mutations in BRCA2 gene which are 999del5 and 6174delT. This study was carried out on fifty Egyptian females, including twenty healthy females as controls and thirty patients with breast cancer. DNA was extracted from the blood. PCR was done for amplification of the founder mutations 999del5 and 6174delT in BRCA2 gene (exons 9 and 11 respectively), gel electrophoresis was done for separation of ampilified DNA bands. Our results showed that the frequency of 999del5 was 14%, and 6174delT founder mutation was 4%, both are from the patient group with family history. We concluded from the founder effect of 999del5 on Egyptian population, and the low frequency of 6174delT founder mutation. It was apparent from the study findings that women with a strong family history were still at higher risk for developing the disease