期刊名称：International Journal of Innovative Research in Science, Engineering and Technology
印刷版ISSN：2347-6710
电子版ISSN：2319-8753
出版年度：2015
卷号：4
期号：2
页码：283
DOI：10.15680/IJIRSET.2015.0402061
出版社：S&S Publications
摘要：In this study we assesed the frequency of two founder mutations in BRCA2 gene which are 999del5 and6174delT. This study was carried out on fifty Egyptian females, including twenty healthy females as controls and thirtypatients with breast cancer. DNA was extracted from the blood. PCR was done for amplification of the foundermutations 999del5 and 6174delT in BRCA2 gene (exons 9 and 11 respectively), gel electrophoresis was done forseparation of ampilified DNA bands. Our results showed that the frequency of 999del5 was 14%, and 6174delTfounder mutation was 4%, both are from the patient group with family history. We concluded from the founder effectof 999del5 on Egyptian population, and the low frequency of 6174delT founder mutation. It was apparent from thestudy findings that women with a strong family history were still at higher risk for developing the disease.
关键词：Breast cancer; BRCA2 gene; founder mutation; familial cancer
