الفهرس 
Breast CancerOnly 14 pages are availabe for public view
 |  | from | 159 |  |  |
| | | from | 159 | | |
Abstract
Breast cancer is the most-commonly diagnosed malignant tumor in women worldwide in Egypt it accounts for 32% of all women’s cancers. Incidence, mortality, and survival rates of BC differ among different parts of the world, which could be due to many factors such as population structure, lifestyle, genetic and environmental factors.
Approximately 5 – 10% of BC cases are hereditary, and nearly 50% of all hereditary BC cases are due to germline mutations in the tumor suppressor genes BRCA1/BRCA2. Pathogenic variants in these genes are highly penetrant and inherited in an autosomal dominant pattern. Mutations in both genes are associated with a relatively high cancer risk. Many studies have also reported an association of BRCA1/2 mutations with tumor aggressiveness and poor clinical outcomes in cancer patients.
This case-control study aimed to evaluate the contribution of germline mutations in BRCA1/2 to BC among Egyptian female patients.
The study included 30 Egyptian BC female patients and 20 age matched apparently healthy Egyptian females. All the enrolled BC patients were diagnosed by clinical examination, radiological investigations and confirmed by histopathological assessment. Detection of BRCA1 gene mutations (185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300T>G, 2080delA) and BRCA2 gene mutation (6174delT) was performed for all subjects enrolled in this study at the Clinical Pathology Department of Ain Shams University Hospitals, by using allelic discrimination PCR assay.