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Frequency Of Rearrangements Versus Small Indels Mutations In BRCA1 And BRCA2 Genes In Turkish Space Patients With High Risk Breast And Ovarian Cancer | 85175
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Frequency of rearrangements versus small indels mutations in BRCA1 and BRCA2 genes in Turkish space patients with high risk breast and ovarian cancer

Joint Meeting on 4th World Congress on Human Genetics & Genetic Diseases and 3rd International Conference on Molecular Medicine & Diagnostics

Betul Celik, Gozde Kuru, S Bugra Tuncer, Seda Kilic, Ozge Sukruoglu, Demet Akdeniz, Mukaddes Avsar, Pınar Saip and Hulya Yazici

Istanbul University, Turkey

Posters & Accepted Abstracts: J Mol Genet Med

DOI: 10.4172/1747-0862-C1-025

Statement of the Problem: The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore, the aim of this study was to evaluate the distribution and frequency of rearrangements in BRCA1 and BRCA2 genes in high-risk families and to clarify the limits of BRCA1 and BRCA2 testing in Turkey. Methodology: The study included 1809 patients at high risk of breast cancer or ovarian cancer. All patients were investigated for both small indels and rearrangements of BRCA genes using DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis. Findings: The overall frequency of rearrangements was 2% (25/1262). The frequency of rearrangements was 1.7% (18/1086) and 4% (9/206) in patients with breast cancer and ovarian cancer, respectively. The frequency of rearrangements was 3.7% (8/215) in patients with triple-negative breast cancer. The rearrangement rate was 7.7% (2/26) in patients with both breast and ovarian cancer. Conclusion & Significance: Rearrangements were found with high rates and were strongly associated with bilateral and triple-negative status of patients with breast cancer, which are signs of high risk for breast and ovarian cancer. Analysis of rearrangements should definitely be included in routine clinical practice in Turkey for high-risk families and also for improved cancer risk prediction for families.

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