Abstract: Breast cancer is the most common cancer in women and its impact on morbidity and mortality is
significant and well documented. BRCA genes mutation account for most of the cases of familial breast cancer.
Female BRCA1 mutation carriers have an 80% to 85% risk of developing breast cancer over their life-time. This
study aims to detect 5382insC ,185delAG and C61G mutations in BRCA1 gene in healthy females and breast
cancer female patients in Qalubia Governorate and correlate them with the presence or absence of family history
of breast &/ or ovarian cancer to allow identification of individuals at high risk. Materials and methods: 50 females
divided into 20 healthy females and 30 breast cancer patients with or without family history of breast &/or ovarian
cancers were included in the study.185delAG and 5382insC mutation were detected by multiplex mutagenically
separated PCR (MS - PCR) and C61G mutation was detected using the RFLP method. Results: It was found that the
incidence of BRCA1 gene mutation in the breast cancer group was higher than its incidence in the control group
Also the incidence of BRCA1 gene mutation in the groups with family history was higher than in the groups without
family history. In addition, multiple exons mutation frequency was higher than one exon mutation in the breast
cancer group with family history .Moreover, 5382insC mutation was found to be the most frequent BRCA 1 gene
mutation among the females of Qalubia governorate followed by C61G mutation and 185 delAG mutation.
Conclusion: In conclusion, BRCA1 gene mutation and multiple BRCA1 exons mutations play an important role in
the pathogenesis of familial breast cancer in Qalubia Governorate, Egypt.
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