下一代测序揭示肾母细胞瘤与神经母细胞瘤同步发生婴儿的胚系突变
婴儿同步肾母细胞瘤与神经母细胞瘤的NGS基因测序数据集,发现ALK和FANCD2新突变及相关SNP。

基本信息
资源简介
下一代测序揭示肾母细胞瘤与神经母细胞瘤同步发生婴儿的胚系突变
【数据集背景】
本数据集源站标题为《Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma》。配套论文《Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma》发表于 Pediatric Hematology and Oncology(2016),DOI:10.1080/08880018.2016.1184362。源站首次发布:2016-06-10。
【数据内容】
源站原始描述:Although neuro- and nephroblastoma are common solid tumors in children, the simultaneous occurrence is very rare and is often associated with syndromes. Here, we present a unique case of synchronous occurrence of neuro- and nephroblastoma in an infant with no signs of congenital anomalies or a syndrome. We performed genetic testing for possible candidate genes as underlying mutation using the next-generation sequencing (NGS) approach to target 94 genes and 284 single-nucleotide polymorphisms (SN…
【数据结构与技术规格】
文件数 2 个,合计 141.31 KB。ipho_a_1184362_sm6867.pdf:application/pdf,90.23 KB。ipho_a_1184362_sm6866.pdf:application/pdf,51.09 KB。数据集 DOI:10.6084/m9.figshare.3427172.v1。
【主题与分类】
源站学科分类:Physical Sciences not elsewhere classified、Genetics、Molecular Biology、Neuroscience、Biological Sciences not elsewhere classified、Information Systems not elsewhere classified。主题标签:ALK、FANCD2、nephroblastoma、neuroblastoma、next-generation sequencing、predisposing genetic alterations、wilms tumor。
【适用方向】
组学数据适用于生物标志物发现与分子分型相关建模研究。
【获取与许可】
源站页面:https://tandf.figshare.com/articles/dataset/Next-generation_sequencing_reveals_germline_mutations_in_an_infant_with_synchronous_occurrence_of_nephro-_and_neuroblastoma/3427172
使用许可:CC BY 4.0(https://creativecommons.org/licenses/by/4.0/)。
规范引用:Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma. Taylor & Francis. Theruvath, Johanna; Russo, Alexandra; Kron, Bettina; Paret, Claudia; Wingerter, Arthur; Malki, Khalifa El; et al
【使用注意】
· 源站最后修改于 2023-06-01,引用时请注意版本时效。
下载信息
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使用方式
数据集获取(Figshare)
- 源站标题:Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma
- DOI:10.6084/m9.figshare.3427172.v1
- 发布日期:2016-06-10
- 文件数:2 个
- 文件总体积:141.31 KB
- 源站页面:https://tandf.figshare.com/articles/dataset/Next-generation_sequencing_reveals_germline_mutations_in_an_infant_with_synchronous_occurrence_of_nephro-_and_neuroblastoma/3427172
命令行下载
curl -L -o "ipho_a_1184362_sm6867.pdf" "https://ndownloader.figshare.com/files/5369828"
curl -L -o "ipho_a_1184362_sm6866.pdf" "https://ndownloader.figshare.com/files/5369831"
文件清单
ipho_a_1184362_sm6867.pdf(90.23 KB)ipho_a_1184362_sm6866.pdf(51.09 KB)
文件总体积 141.31 KB(源站 API 实测)。
数据说明
Although neuro- and nephroblastoma are common solid tumors in children, the simultaneous occurrence is very rare and is often associated with syndromes. Here, we present a unique case of synchronous occurrence of neuro- and nephroblastoma in an infant with no signs of congenital anomalies or a syndrome. We performed genetic testing for possible candidate genes as underlying mutation using the next-generation sequencing (NGS) approach to target 94 genes and 284 single-nucleotide polymorphisms (SNPs) involved in cancer. We uncovered a novel heterozygous germline missense mutation p.F58L (c.172T→C) in the anaplastic lymphoma kinase (ALK) gene and one novel heterozygous rearrangement Q418Hfs*11 (c.1254_1264delins TTACTTAGTACAAGAACTG) in the Fanconi anemia gene FANCD2 leading to a truncated protein. Besides, several SNPs associated with the occurrence of neuroblastoma and/or nephroblastoma or multiple primary tumors were identified. The next-generation sequencing approach might in the future be useful not only in understanding tumor etiology but also in recognizing new genetic markers and targets for future personalized therapy.
许可
CC BY 4.0
引用
学术使用请引用 DOI 10.6084/m9.figshare.3427172.v1(source: https://tandf.figshare.com/articles/dataset/Next-generation_sequencing_reveals_germline_mutations_in_an_infant_with_synchronous_occurrence_of_nephro-_and_neuroblastoma/3427172)。
数据缺失?
依托陕西、四川两大基地,我们与超过十家三甲医院建立直接合作关系,覆盖合规授权、采集治理、专业标注、数据交付的全流程,为AI医疗团队提供即拿即用的高质量临床数据。
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