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TR DİZİN Özgün Makale Scopus
Investigation of the Relationship Between DNA Mismatch Repair Genes and Microsatellite Instability in Solid Tumors
Genel Tıp Dergisi 2024 Cilt 34 Sayı 5
Scopus Eşleşmesi Bulundu
34
Cilt
685-695
Sayfa
🔓
Açık Erişim
Scopus Yazarları: Ozkan Bağcı
Özet
Aim: In this study, we aimed to detect the MSI status and somatic mutations in MMR genes (MSH2, MSH6, MLH1, PMS2) of a total of 55 solid tumors diagnosed with colorectal, endometrium and ovarian cancer by NGS method and to reveal the relationship between them. Material and Method: DNA isolation was performed by taking 10-micron sections from paraffin-embedded tissue samples of 55 patients diagnosed with kolorektal, endometrium ve ovarian solid tümörlerinin and Kapa NGS DNA extraction kit was used for sequence analysis. The purity and concentration of the DNA obtained was measured by Qubit fluoremeter, and NadPrep DNA Universal Library Preparation Kit was used for high quality library preparation. Bioinformatics analyses were performed on the Genomize Seq platform. The MSI value was analysed by Roche Navify Mutation Caller software and percentage MSI values were determined using the MSIsensor2 pipeline for secondary analysis of NGS. Results: All ovarian tumors were in the MSI-Stable category. The average MSI value was 2.01. One sample had an MSI of zero. In addition, no mutations in the MSH2 and MLH1 genes were detected in any of the ovarian tumors. 3 of 4 endometrial tumors were in the MSI-Stable category, and 1 tumor was in the MSI-low (MSI value: 13.2) category. No variants were detected in the MSH2 and PMS2 genes in endometrial tumors. 2 of the 41 colorectal tumors (Case4, Case16) were in the MSI-High category. No variants were detected in the MMR genes in 19 tumors. Conclusion: Although frame-shift and stop-gain mutations were detected in 23 tumors that would cause protein deficiency in MMR genes, MSI-H was not detected, as expected, except for two colorectal tumors. Therefore, the results of our study emphasise the need to define new predictive biomarkers clinically within the framework of algorithms to predict response to immunotherapy and determine prognosis.
Anahtar Kelimeler (Scopus)
Endometrium cancer MMR MSI Ovarian cancer Colorectal cancer

Anahtar Kelimeler

Endometrium cancer MMR MSI Ovarian cancer Colorectal cancer

Makale Bilgileri

Dergi Genel Tıp Dergisi
ISSN 2602-3741
Yıl 2024 / 10. ay
Cilt / Sayı 34 / 5
Sayfalar 689 – 695
Makale Türü Özgün Makale
Hakemlik Hakemli
Endeks TR DİZİN
TEŞV Puanı 45,00
Yayın Dili Türkçe
Kapsam Ulusal
Toplam Yazar 1 kişi
Erişim Türü Basılı+Elektronik
Erişim Linki Makaleye Git
Alan Sağlık Bilimleri Temel Alanı Tıbbi Genetik

YÖKSİS Yazar Kaydı

Yazar Adı BAĞCI ÖZKAN
YÖKSİS ID 8130868