الفهرس | Only 14 pages are availabe for public view |
Abstract Breast cancer is the leading cause of cancer-related death in women worldwide. In Egypt, its incidence is progressively increasing with a great tendency to occur with advanced stages in younger ages. Based on biological characteristics and on gene expression pattern, it was classified into different subtypes each exhibits a unique gene mutation profile. Therefore, research is needed to investigate the unknown genetic mutations involved in the progression of that disease. This study aimed to sequence 409 exons of tumor suppressor genes and oncogenes to identify the frequency of the detected genetic mutations in Egyptian breast cancer patients using Ion Comprehensive Cancer Panel. Forty-eight tissue samples of various breast cancer subtypes and five fibroadenoma samples were collected from National Cancer Institute (NCI), Cairo University. The detected genetic variants were annotated against 1000 genomes and dbSNP reference databases. Also, the Egyptian genome variation data were used to filter out Egyptian-specific normal polymorphism. Analysis revealed 191 exonic and splicing variants |