المستخلص: |
Breast carcinoma is the commonest malignancy in women and it has become a major health problem affecting women, worldwide. Mutations in the two breast cancer susceptibility genes, BRCA1/BRCA2 increase the risk of developing breast cancer. Objectives: To study the frequency of the three founder mutations; 185delAG and the 5382insC in BRCA1and the 6174delTin BRCA2 genes, using the Multiplex PCR Technique. Methods: In this study 150 patients with familial breast cancer diagnosed pathologically as having breast cancer collected from middle and south of Iraq from May 2017 to April 2018. In addition to control group(120 benign breast tumors) were used for dtection of BRCA1/BRCA2 mutations in the two groups. PCR amplification by using (KAPA 2GTMFast Multiplex PCR-Kit),was used for detection of mutation. Results: From all patients 34(22.7%) have BRCA mutations, 16.7% patients with mutations were indicated to have one mutation in BRCA1"185 del AG or 5382 ins C" , 2.7% were found to have two mutations in BRCA1" 185 del AG and 5382 ins C",1.3% were verified to have one mutation "6174 del T" in BRCA2, 2.0% were indicated to have two mutations in both BRCA1 and BRCA2 "5382 ins C and 6174delT", 2.5% mutation were presented in control group. BRCA1 "5382 ins C" mutation presented in 61.77% in ages less than 45 years, while BRCA2 "6174del T" was observed in 5.88% patients of ages higher 45 years. Conclusion: In Iraq, the frequency of breast cancer was presented in high percent in southern governorate than middle governorate due to They have the characteristics of significantly high frequency of family history, environmental factor high grade and advanced The BRCA1 (5382insC) mutations were percent than BRCA2.
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