子宫平滑肌肉瘤外显子测序揭示TP53、ATRX和MED12频繁突变

资源简介

子宫平滑肌肉瘤外显子测序揭示TP53、ATRX和MED12频繁突变

【数据集背景】

本数据集源站标题为《Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12》。配套论文《Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12》发表于 PLOS Genetics（2016），DOI：10.1371/journal.pgen.1005850。源站首次发布：2016-02-18。

【数据内容】

源站原始描述：Uterine leiomyosarcomas (ULMSs) are aggressive smooth muscle tumors associated with poor clinical outcome. Despite previous cytogenetic and molecular studies, their molecular background has remained elusive. To examine somatic variation in ULMS, we performed exome sequencing on 19 tumors. Altogether, 43 genes were mutated in at least two ULMSs. Most frequently mutated genes included tumor protein P53 (TP53; 6/19; 33%), alpha thalassemia/mental retardation syndrome X-linked (ATRX; 5/19; 26%), and…

【数据结构与技术规格】

文件数 6 个，合计 728.85 KB。S1 Fig.pdf：application/pdf，49.15 KB。S2 Fig.pdf：application/pdf，321.90 KB。S1 Table.pdf：application/pdf，298.81 KB。数据集 DOI：10.1371/journal.pgen.1005850。

【主题与分类】

源站学科分类：Biochemistry、Cell Biology、Genetics、Molecular Biology、Biotechnology、Biological Sciences not elsewhere classified。主题标签：exome sequencing、ULMS、MED 12 alterations、tumor protein P 53、DAXX、mutation、gene、ATRX expression、ALT phenotype、MED 12 Uterine leiomyosarcomas。

【适用方向】

源站学科分类标注为 Biochemistry、Cell Biology、Genetics、Molecular Biology、Biotechnology、Biological Sciences not elsewhere classified。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/Exome_Sequencing_of_Uterine_Leiomyosarcomas_Identifies_Frequent_Mutations_in_i_TP53_i_i_ATRX_i_and_i_MED12_i_/2584510

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Mäkinen, Netta; Aavikko, Mervi; Heikkinen, Tuomas; Taipale, Minna; Taipale, Jussi; Koivisto-Korander, Riitta; et al. (2016). Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12. PLOS Genetics. Dataset

【使用注意】

· 源站最后修改于 2023-05-31，引用时请注意版本时效。