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DOI | 10.1038/s41467-018-05423-x |
Inherited determinants of early recurrent somatic mutations in prostate cancer | |
Romanel, Alessandro1; Garritano, Sonia1; Stringa, Blerta1; Blattner, Mirjam1; Dalfovo, Davide1; Chakravarty, Dimple2; Soong, David3; Cotter, Kellie A.2; Petris, Gianluca1; Dhingra, Priyanka3; Gasperini, Paola1; Cereseto, Anna1; Elemento, Olivier2,3; Sboner, Andrea2; Khurana, Ekta2; Inga, Alberto1; Rubin, Mark A.2,4,5; Demichelis, Francesca1,2 | |
2017-06-29 | |
发表期刊 | NATURE COMMUNICATIONS
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ISSN | 2041-1723 |
出版年 | 2017 |
卷号 | 8 |
文章类型 | Article |
语种 | 英语 |
国家 | Italy; USA |
英文摘要 | Prostate cancer is a highly heritable molecularly and clinically heterogeneous disease. To discover germline events involved in prostate cancer predisposition, we develop a computational approach to nominate heritable facilitators of somatic genomic events in the context of the androgen receptor signaling. Here, we use a ranking score and benign prostate transcriptomes to identify a non-coding polymorphic regulatory element at 7p14.3 that associates with DNA repair and hormone-regulated transcript levels and with an early recurrent prostate cancer-specific somatic mutation in the Speckle-Type POZ protein (SPOP) gene. The locus shows allele-specific activity that is concomitantly modulated by androgen receptor and by CCAAT/enhancer-binding protein (C/EBP) beta (CEBPB). Deletion of this locus via CRISPR-Cas9 leads to deregulation of the genes predicted to interact with the 7p14.3 locus by Hi-C chromosome conformation capture data. This study suggests that a polymorphism at 7p14.3 may predispose to SPOP mutant prostate cancer subclass through a hormone-dependent DNA damage response. |
领域 | 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000404333000007 |
WOS关键词 | BINDING ; GENE ; RISK ; SPOP ; IDENTIFICATION ; ASSOCIATION ; FREQUENCY ; VARIANTS ; TMPRSS2 ; FUSION |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
URL | 查看原文 |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/203906 |
专题 | 资源环境科学 |
作者单位 | 1.Univ Trento, Ctr Integrat Biol, Via Sommarive 9, I-38123 Trento, Italy; 2.Weill Cornell Med, Caryl & Israel Englander Inst Precis Med, New York Presbyterian Hosp, 413 East 69th St, New York, NY 10021 USA; 3.Weill Cornell Med, Dept Physiol & Biophys, 1300 York Ave, New York, NY 10065 USA; 4.Weill Cornell Med, Dept Pathol & Lab Med, 1300 York Ave, New York, NY 10065 USA; 5.Weill Cornell Med, Sandra & Edward Meyer Canc Ctr, 1300 York Ave, New York, NY 10065 USA |
推荐引用方式 GB/T 7714 | Romanel, Alessandro,Garritano, Sonia,Stringa, Blerta,et al. Inherited determinants of early recurrent somatic mutations in prostate cancer[J]. NATURE COMMUNICATIONS,2017,8. |
APA | Romanel, Alessandro.,Garritano, Sonia.,Stringa, Blerta.,Blattner, Mirjam.,Dalfovo, Davide.,...&Demichelis, Francesca.(2017).Inherited determinants of early recurrent somatic mutations in prostate cancer.NATURE COMMUNICATIONS,8. |
MLA | Romanel, Alessandro,et al."Inherited determinants of early recurrent somatic mutations in prostate cancer".NATURE COMMUNICATIONS 8(2017). |
条目包含的文件 | 条目无相关文件。 |
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