B7-H4 Gene Variations in Postmenopausal Estrogen Receptor Positive Breast Cancer

Abstract

Objective: B7-H4 gene, which has an immunosuppressive effect on T cell immunity by inhibiting T cell function, has been shown to be effective in tumor progression and poor prognosis in many types of human tumors, Increasing B7-H4 gene expression in various types of cancer, including renal cell carcinoma, ovarian cancer, gastric cancer and breast cancer, recently has led to the consideration of B7-H4 targeting in cancer treatment. Polymorphism studies of B7-H4 that may affect its expression control are very limited. Considering that polymorphisms show differences at the population level, the study of rs10754339, rs10801935 and rs3738414, which are likely to have an effect on the expression of the B7-H4 gene in different populations, may provide valuable information, especially in cancer types in which it shows high expression. For this purpose, we repeated the research, we conducted for the first time in Turkish breast cancer patients previously, in order to more clearly reveal the pathogenesis of B7-H4 gene in breast cancer. Material-Method: In our study, following DNA isolation of 201 cases, SNP analysis based on multiplex PCR and MALDI-TOF was performed.Results: Despite the increasing number of cases, as in our previous study, B7-H4 gene polymorphisms did not show statistically significant association with breast cancer. In addition, the related polymorphisms did not show a statistically significant relationship with the clinopathological data. Conclusion: Our study results have made us think that B7-H4 gene 10754339, rs10801935 and rs3738414 SNPs will not be effective in evaluating breast cancer susceptibility in the Turkish population.

Postmenopozal Östrojen Reseptör Pozitif Meme Kanserinde B7-H4 Geni Varyasyonları

Abstract

Amaç: T hücre fonksiyonunu inhibe etmek suretiyle, T hücre immünitesinde immünsupresif etki gösteren B7-H4 geninin, pek çok insan tümörü çeşidinde, tümör progresyonu ve zayıf prognozda etkili olduğu yapılan çalışmalarda gösterilmiştir. Renal hücre karsinomu, over kanseri, gastrik kanser ve meme kanseri de dahil olmak üzere, çeşitli kanser türlerinde B7-H4 geni ekpresyonunun artması ve bu durumun karsinojenik etkiye sebep olması, son zamanlarda kanser tedavisinde B7-H4’ün hedef alınmasını düşündürmüştür. B7-H4’ün ekspresyon kontrolüne etki edebilecek polimorfizm çalışmaları oldukça sınırlıdır. Polimorfizmlerin popülasyon düzeyinde farklılıklar gösterdiği de göz önüne alındığında, B7-H4 geninin ekspresyonu üzerinde etkili olabileceği muhtemel olan rs10754339, rs10801935 ve rs3738414 SNP’lerinin, farklı popülasyonlarda, özellikle yüksek ekspresyon gösterdiği kanser türlerinde çalışılması değerli bilgiler sağlayabilecektir. Biz de bu amaçla, daha önce Türk popülasyonunda meme kanserinde ilk defa yaptığımız araştırmayı, meme kanserinde B7-H4 geninin patogenezini daha net ortaya koymak amacıyla daha fazla olgu grubunda gerçekleştirdik. Materyal-Metot: Çalışmamızda toplam 201 olgunun DNA izolasyonunu takiben, multipleks PCR ve MALDI-TOF temeline dayanan SNP analizi yapıldı. Bulgular: Artan olgu sayımıza rağmen bir önceki çalışmamızda olduğu gibi B7-H4 geni 10754339, rs10801935 ve rs3738414 polimorfizmleri meme kanseriyle istatistiki olarak anlamlı bir birliktelik göstermedi. Ayrıca ilgili polimorfizmler, klinopatolojik verilerle de istatistiki olarak anlamlı bir ilişki göstermedi. Sonuç: Çalışma sonuçlarımız bize, Türk popülasyonunda meme kanseri yatkınlığını değerlendirmede B7-H4 geni 10754339, rs10801935 ve rs3738414 polimorfizmlerinin etkili olmayacağını düşündürmüştür.

Keywords

• Meme Kanseri
• B7-H4 Geni
• Polimorfizm

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