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Novel RET Proto-oncogene variants identified in Turkish patients with thyroid carcinoma

Novel RET Proto-oncogene variants identified in Turkish patients with thyroid carcinoma

Authors :
Melek Yuce
Sengul Tural
Ayfer Kamali Polat
Betul Z. Celik
Esra Tekcan
Ufuk Karabacak
Nurten Kara
Ondokuz Mayıs Üniversitesi
Source :
Gene. 746
Publication Year :
2019

Abstract

WOS: 000530711400001 PubMed: 32240776 Thyroid cancer is one of the few malignancies whose incidence is increasing in the last decades. Advances in understanding the molecular mechanisms lead to provide opportunity for prevention, effective early identification and targeted therapies for management. A total of 63 patients with participated in this study Genomic DNA samples were obtained from the samples formalin- embedded tissue and peripheral blood. Following polymerase chain reaction amplification of the 6 RET key exons (10, 11, 13, 14, 15, and 16) were applied and PCR products were subjected to next generation DNA sequencing (ABI 3730). Results revealed that; genotype frequencies were for rs1800961 (G > T) , GG 6 (%9.5), GT 17 (%27) TT40 (%63.5) for rs2472732 (G > A), GG31 (%49.2) GA29 (%46) AA3 (%4.8,) for rs1799939, (G > A) GG42 (%66.7) GA19 (%30.2) AA2 (%3.2), for rs1800962, (C > T) CC54 (%85.7) CT9 (%14.3), for rs1800863 (C > G), CC39 (%61.9) CG22 (%34.9) GG2 (%3.2), for rs3026272 (C > G) CC 13 (%20.6) CG 50 (%79.4). Additionally 15 potential novel genetic variants were identified in these key exons. Detailed information was given both known and new detected variants in supplementary table. Genetic variants distribution frequencies and new variants represented in Turkish thyroid cancer patients for RET proto-oncogene and that results would provide contribution to the literature. Ondokuz Mayis University BAPOndokuz Mayis University [PYO-TIP-1901.16.001] We would like to thank Ondokuz Mayis University BAP for supporting our project (PYO-TIP-1901.16.001).

Details

ISSN :
18790038
Volume :
746
Database :
OpenAIRE
Journal :
Gene
Accession number :
edsair.doi.dedup.....a6716ffef9d54eb2c72f4f6e9c93c278