دورية أكاديمية
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia
| العنوان: | Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia |
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| المؤلفون: | Dafeng Lin, Dianpeng Wang, Peimao Li, Lihua Deng, Zhimin Zhang, Yanfang Zhang, Ming Zhang, Naixing Zhang |
| المصدر: | BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023) |
| بيانات النشر: | BMC, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | Benzene, Exome, High-throughput sequencing, Leukemia, Genetic variant, Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Abstract Background Genome-wide sequencing may extensively identify potential pathogenic variants, which helps to understand mechanisms of tumorigenesis, but such study has not been reported in benzene-induced leukemia (BIL). Methods We recruited 10 BIL patients and conducted the whole-exome sequencing on their peripheral blood samples. The obtained sequencing data were screened for potential pathogenic and novel variants, then the variants-located genes were clustered to identify cancer-related pathways. Shared or recurrent variants among the BIL cases were also identified and evaluated for their potential functional impact. Results We identified 48,802 variants in exons in total, 97.3% of which were single nucleotide variants. After filtering out variants with minor allele frequency ≥ 1%, we obtained 8667 potentially pathogenic variants, of which 174 were shared by all the BIL cases. The identified variants located in genes that could be significantly enriched into certain cancer-related pathways such as PI3K-AKT signaling pathway and Ras signaling pathway. We also identified 1010 novel variants with no record in the Genome Aggregation Database and in dbSNP, and one of them was shared by 90% cases. The recurrent and novel variant caused a missense mutation in SESN3. Conclusions We examined variations of the whole exome in BIL patients for the first time. The commonly shared variants implied a relation with BIL, and the recurrent and novel variant might be specifically related to BIL. The related variants may help unravel the carcinogenic mechanisms of BIL. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1755-8794 |
| Relation: | https://doaj.org/toc/1755-8794 |
| DOI: | 10.1186/s12920-023-01442-w |
| URL الوصول: | https://doaj.org/article/31891ceffa4d48328e77037cae204ec6 |
| رقم الأكسشن: | edsdoj.31891ceffa4d48328e77037cae204ec6 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 17558794 |
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| DOI: | 10.1186/s12920-023-01442-w |