Investigation of effects of PALB2 genetic variations on breast cancer predisposition

Yıl 2020, Cilt: 45 Sayı: 1, 186 - 194, 31.03.2020

Müge Yüksel Bilen Mehmet Berköz Ali Erdinç Yalın Züleyha Çalıkuşu Pelin Eroğlu Ülkü Çömelekoğlu Serap Yalın

https://doi.org/10.17826/cumj.634598

Cited By: 1

Öz

Purpose: In this study, the effects of three different single nucleotide polymorphisms (rs249954, rs249935, and rs16940342) of partner and localizer of breast cancer gene 2 (PALB2) on breast cancer predisposition have been investigated.
Materials and Methods: For this purpose, 150 patients diagnosed to have breast cancer and 150 healthy individuals have been included. By using real time polymerase chain reaction (PCR) method isolated deoxyribonucleic acid (DNA) from each case has been investigated for the PALB2 genetic variations.
Results: The distribution of homozygote wild type (AA) and heterozygote (AG) genotypes at rs16940342 polymorphism has been observed to be 44.7% and 55.3% in breast cancer group and 32.7% and 67.3% in control group. The homozygote polymorphic (GG) genotype was not observed in both groups. The discrepancy between the groups in terms of genotype distribution regarding rs16940342 polymorphism has been found statistically significant. However, there was no significant difference in the frequencies of rs249954 and rs249935 polymorphisms comparing both groups.
Conclusion: These results show that rs16940342 polymorphism may be an important determinant in terms of breast cancer predisposition in the Turkish population.

Anahtar Kelimeler

Breast cancer, genetic polymorphism, breast cancer gene 2

Destekleyen Kurum

Mersin Üniversitesi BAP Birimi

Proje Numarası

(BAP-SBE BK (MYB) 2010-5 YL)

Teşekkür

This study was supported by Mersin University Research Foundation (BAP-SBE BK (MYB) 2010-5 YL).

PALB2 genetik varyasyonlarının meme kanseri yatkınlığı üzerindeki etkilerinin araştırılması

Öz

Amaç: Bu çalışmada, meme kanseri geni partner ve lokalizeri-2’nin (PALB2) üç farklı tek nükleotid polimorfizminin (rs249954, rs249935 ve rs16940342) meme kanseri predispozisyonu üzerindeki etkileri araştırılmıştır.
Gereç ve Yöntem: Bu amaçla, çalışmamıza meme kanseri tanısı almış 150 hasta ve 150 sağlıklı birey dahil edilmiştir. Gerçek zamanlı polimeraz zincir reaksiyonu (PCR) yöntemi kullanılarak, her bir vakadan izole edilmiş deoksiribonükleik asit (DNA), PALB2 genetik varyasyonları için araştırılmıştır.
Bulgular: rs16940342 polimorfizminin homozigot yabanıl tip (AA) ve heterozigot (AG) genotip dağılımı meme kanseri grubunda sırasıyla % 44,7 ve % 55,3, kontrol grubunda ise % 32,7 ve % 67,3 olarak bulunmuştur. Her iki grupta da homozigot polimorfik (GG) genotip gözlenmemiştir. rs16940342 polimorfizmi için gruplar arasındaki genotip dağılımı açısından fark istatistiksel olarak anlamlı bulunmuştur. Bununla birlikte, her iki grup karşılaştırıldığında rs249954 ve rs249935 polimorfizmlerinin sıklığı bakımından istatistiksel olarak anlamlı bir fark bulunamamıştır.
Sonuç: Bu sonuçlar rs16940342 polimorfizminin Türk popülasyonunda meme kanseri yatkınlığı açısından önemli bir belirleyici rol üstlenebileceğini göstermektedir.

Anahtar Kelimeler

Meme kanseri, genetik polimorfizm, PALB2

Proje Numarası

(BAP-SBE BK (MYB) 2010-5 YL)

Kaynakça

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