| Autor: |
Hülya, Yazıcı, Seda, Kılıç, Demet, Akdeniz, Özge, Şükrüoğlu, Şeref Buğra, Tuncer, Mukaddes, Avşar, Gözde, Kuru, Betül, Çelik, Seden, Küçücük, Pınar, Saip |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
European journal of breast health. 14(2) |
| ISSN: |
2587-0831 |
| Popis: |
The current rearrangement ratio ofThe 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.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.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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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