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The role of the MYC gene in BRCA positive results

2025
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Advisor: Dr. Öğr. Üyesi Diclehan Oral

Abstract (EN)

Aim: Breast and ovarian cancers are among the most common cancers in women worldwide. Both are complex diseases with significant heterogeneity. In our study, we aimed to investigate the possible role of the MYC gene in individuals who were examined with a preliminary diagnosis of breast or ovarian cancer and were found to have a positive BRCA mutation. Materials and Methods: BRCA1/2 mutations were analyzed using NGS from blood samples collected from patients presenting to our Department of Medical Biology at Dicle University with a preliminary diagnosis of breast or ovarian cancer. DNA samples from patients with positive BRCA mutations were analyzed using RT-PCR for two potentially functional SNPs located in the MYC gene region, rs4645943 and rs2070583. Correlations between the data were evaluated using statistical methods. Result: The genotype distributions at the rs2070583 locus in the MYC gene were determined as 100% AA, 0% AG, and 0% GG in the control group; 97.8% AA, 2.2% AG, and 0% GG in the patient group; and this polymorphism was not observed to be significantly associated with the BRCA gene (p>0.05). The genotype distributions of the other studied locus, rs4645943, were determined as 15.6% CC, 84.4% CT, and 0% TT in the control group; and 0% CC, 100% CT, and 0% TT in the patient group, suggesting that rs4645943 polymorphism may be associated with the BRCA gene Conclusion: In our study, a significant difference was found in the rs4645943 C> T single nucleotide polymorphism (p<0,05) in the MYC gene in individuals carrying BRCA mutations. This study suggests that there may be a relationship between the rs4645943 C> T polymorphism and BRCA. Keywords:BRCA1/2, NGS, Breast cancer, Ovarian cancer

Author

Dr. Esra İldeniz Özalp

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Esra İldeniz Özalp (Doctorate thesis). The role of the MYC gene in BRCA positive results, 2025, Dicle University.

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