Novel RET Proto-oncogene Variants Identified in Turkish Patients with Thyroid Carcinoma.

Novel RET Proto-oncogene Variants Identified in Turkish Patients with Thyroid Carcinoma. Gene. 2020 Mar 30;:144611 Authors: Sengul T, Melek Y, Ayfer Kamali P, Esra T, Betul C, Ufuk K, Nurten K Abstract 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 ...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research