在土耳其甲状腺癌患者中鉴定出新型 RET 原癌基因变异。

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

机构信息

Ondokuz Mayis University Faculty of Medicine, Department of Medical Biology, Section of Medical Genetics, Samsun, Turkey.

Ondokuz Mayis University Health Services of Vocational School, Samsun, Turkey.

出版信息

Gene. 2020 Jul 1;746:144611. doi: 10.1016/j.gene.2020.144611. Epub 2020 Mar 30.

DOI:10.1016/j.gene.2020.144611

PMID:32240776

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 in Turkish thyroid cancer patients for RET proto-oncogene and that results would provide contribution to the literature.

摘要

甲状腺癌是少数发病率在过去几十年中呈上升趋势的恶性肿瘤之一。对分子机制的深入了解为预防、早期有效识别和靶向治疗提供了机会。共有 63 名患者参与了这项研究，从福尔马林固定组织和外周血样本中获得了基因组 DNA 样本。随后应用聚合酶链反应扩增了 6 个 RET 关键外显子（10、11、13、14、15 和 16），并对 PCR 产物进行了下一代 DNA 测序（ABI 3730）。结果表明; 基因型频率为 rs1800961（G>T），GG6（9.5%），GT17（27%），TT40（63.5%），rs2472732（G>A），GG31（49.2%），GA29（46%），AA3（4.8%），rs1799939（G>A），GG42（66.7%），GA19（30.2%），AA2（3.2%），rs1800962（C>T），CC54（85.7%），CT9（14.3%），rs1800863（C>G），CC39（61.9%），CG22（34.9%），GG2（3.2%），rs3026272（C>G），CC13（20.6%），CG50（79.4%）。此外，在这些关键外显子中还发现了 15 种潜在的新遗传变异。在补充表中给出了详细的已知和新检测到的变异信息。RET 原癌基因在土耳其甲状腺癌患者中的遗传变异分布频率和新变异代表了该研究领域的贡献。