Mutations of genes including DNMT3A detected by next-generation sequencing in thyroid cancer |
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| Authors: | Ling-Chuan Guo Wei-Dong Zhu Xiang-Yuan Ma Hao Ni En-Jian Zhong Yang W Shao |
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| Institution: | 1. Department of Pathology, Hospital of Soochow University, Suzhou, China;2. Translational Medicine Research Institution, Geneseeq Technology Inc., Toronto, Ontario, Canada;3. Department of Respiratory Medicine, Hospital of Soochow University, Suzhou, China;4. School of Public Health, Nanjing Medical University, Nanjing, China |
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| Abstract: | More than 90% of thyroid cancer belongs to the papillary and follicular thyroid carcinomas based on pathological subtypes. Papillary and follicular thyroid carcinoma are generally associated with a good prognosis. In contrast, other pathological subtypes such as poorly-differentiated and anaplastic thyroid carcinoma (PDTC and ATC) have a poor clinical outcome with a short life expectancy. To identify the genetic variations and biomarkers that may potentially distinguish the aggressive form of thyroid cancer, we performed a retrospective analysis of the formalin-fixed paraffin-embedded tumor samples from 50 patients who mainly displayed aggressive thyroid cancer using next-generation sequencing of 416 solid tumor-related genes. We adopted extensive bioinformatic analysis to vigorously remove germline single-nucleotide polymorphism and systematic sequencing errors, and report here that mutation in DNMT3A gene was significantly enriched in patients with PDTC or ATC. |
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| Keywords: | thyroid carcinoma gene mutation next-generation sequencing |
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