Molecular characterization of some mutations in BRCA1 and BRCA2 genes of breast cancer patients | ||
| journal of kerbala university | ||
| Article 1, Volume 8, Issue 2, June 2012, Pages 144-151 PDF (0 K) | ||
| Abstract | ||
| The importance of this study is the investigation of mutations in BRCA1 and BRCA2 genes as tumor suppressor genes related to occurrence of breast cancer, and its correlations with tumor marker. Blood sample of (69) breast cancer patients were collected from early detection unit in AL- Hussein teaching hospital in Kerbala governorate, which compared with (30) apparently healthy women. The CA27.29 tumor marker was adopted for detection of breast cancer, The DNA was extracted from blood samples, the detection of BRCA1 and BRCA2 gene mutations were adopted using PCR technique, the molecular diagnosis for (185 del AG) and (5382 ins C) mutations in BRCA1 gene and (6174 del T) mutation BRCA2 gene were applied. The results showed that the higher percentage of mutations were (27.5%) for(185 del AG) mutation in sporadic breast cancer group, and for hereditary breast cancer group, the percentage of(185 del AG) mutation was (20%) and for (5382 ins C) mutation was (10%), while the (6174 del T) mutation is not recorded in both patient groups. And the results also revealed that the total percentages of (185 del AG),(5382 ins C) and (6174 del T) for patient group were (23.19%) , (5.8%) and (0%) respectively, and there were no mutation detection in control group. Finally, the results showed there were no correlation between the tumor marker and mutations, and highly significant correlations between tumor marker of patients in comparison with control group. Key words: Breast cancer, PCR, Mutations, BRCA1, BRCA2, Kerbala | ||
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