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Journals / Türk Biyokimya Dergisi / 2020 / Cilt: 45 - Sayı: 1

Spectrum of BRCA1/BRCA2 variants in1419 Turkish breast and ovarian cancerpatients: a single center study

1419 Türk meme ve over kanseri hastasında BRCA1/BRCA2 varyantlarının dağılımı: tek merkez çalışması

Taha BAHSİ
Haktan Bağış ERDEM
Pages
83–90
Publication Date
2022-11-05
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The thesis that founder mutations show diversity in different populations has been confirmed in our study, and the mutations that are common in Turkish population have been presented in this study.

📌 3 Key Takeaways

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Objective & Hypothesis:Objectives: Hereditary breast and ovarian cancer syn-drome is chacterized with multiple cases of breast cancer and/or ovarian cancer on the same side of the family.
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Key Findings & Data:BRCA1/BRCA2 genes are associated with 20–25% of all patients.
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Conclusion & Impact:The thesis that founder mutations show diversity in different populations has been confirmed in our study, and the mutations that are common in Turkish population have been presented in this study.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objectives: Hereditary breast and ovarian cancer syn-drome is chacterized with multiple cases of breast cancer and/or ovarian cancer on the same side of the family. BRCA1/BRCA2 genes are associated with 20–25% of all patients. For developing national health policies for genetic testing, it is important to determine the range of pathogenic mutations in susceptibility genes and to iden-tify recurrent founder mutations.Materials and methods: All the patients were provided BRCA testing criteria according to National Comprehen-sive Cancer Network. QIAseq multiplex amplicon panel, BRCA MASTR™ Dx and Ion AmpliSeq Panel were used for BRCA1/BRCA2 coding regions. SALSA® MLPA ® was per-formed for negative patients.Results: Of 1419 patients, 134 (9.4%) were found to carry a pathogenic and 5 (0.3%) were found to carry a likely pathogenic mutation. Of those, 58 patients were found to carry a mutation in BRCA1 and 64 in BRCA2. Variant of uncertain significance was detected in 91 patients (6.4%).Conclusion: The spectrum of BRCA1/2 mutations inTurkish population has been shown in the largest patient group to date. The thesis that founder mutations show diversity in different populations has been confirmed in our study, and the mutations that are common in Turkish population have been presented in this study.

Özet

Amaç: Ailesel meme ve over kanseri soygeçmişte çoksayıda meme ve/veya over kanseri ile karakterizedir.Toplam hastaların %20–25’inde BRCA1/BRCA2 gen mutas- yonları mevcuttur. Genetik testlerin uygulanması husu- sunda ulusal bir sağlık politikasının geliştirilebilmesi içinyatkınlık genlerindeki patojenik mutasyonların dağılımı- nın belirlenmesi ve kurucu mutasyonların tanımlanmasıgerekmektedir. Gereç ve Yöntem: Tüm hastalar, Amerikan Ulusal KanserAğı’nın kriterlerine göre BRCA testine alındılar. BRCA1/ BRCA2 genlerinin kodlayıcı bölgelerini dizilemek içinQIAseq multiplex amplicon panel, BRCA MASTR™ Dx veIon AmpliSeq Panel kullanıldı. Negatif hastalara SALSA®MLPA ® kiti uygulandı. Bulgular: 1419 hastanın, 134’ünde (%9.4) patojenik ve5’inde (0.3%) olası patojenik mutasyon tespit edildi. Buhastaların 58’i BRCA1 mutasyonu, 64’ü ise BRCA2 mutas- yonu taşıyordu. 91 (%6.4) hastada önemi belirsiz değişik- lik saptandı. Sonuç: Bu çalışmayla, Türk toplumundaki BRCA1/2 mutas- yonlarının dağılımı şimdiye kadar bildirilmiş en genişhasta grubunda gösterildi. Bizim çalışmamızda da doğ- rulandığı üzere, kurucu mutasyonlar farklı popülas- yonlar arasında değişiklik gösterebilmektedir. Ayrıca çalışmamızda Türk toplumunda yaygın olarak görülenmutasyonlar sunularak irdelenmiştir.

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Cite This Article

BAHSİ, T., ERDEM, H. B. (2022). Spectrum of BRCA1/BRCA2 variants in1419 Turkish breast and ovarian cancerpatients: a single center study. Türk Biyokimya Dergisi, Cilt: 45 - Sayı: 1, 83–90. https://ajindex.com/articles/621184

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