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DOI | 10.1038/s41467-018-05493-x |
Punctuated evolution of canonical genomic aberrations in uveal melanoma | |
Field, Matthew G.1,2; Durante, Michael A.1,2; Anbunathan, Hima3; Cai, Louis Z.1,2; Decatur, Christina L.1,2; Bowcock, Anne M.3; Kurtenbach, Stefan1,2; Harbour, J. William1,2 | |
2018-01-09 | |
发表期刊 | NATURE COMMUNICATIONS |
ISSN | 2041-1723 |
出版年 | 2018 |
卷号 | 9 |
文章类型 | Article |
语种 | 英语 |
国家 | USA; England |
英文摘要 | Cancer is thought to arise through the accumulation of genomic aberrations evolving under Darwinian selection. However, it remains unclear when the aberrations associated with metastasis emerge during tumor evolution. Uveal melanoma (UM) is the most common primary eye cancer and frequently leads to metastatic death, which is strongly linked to BAP1 mutations. Accordingly, UM is ideally suited for studying the clonal evolution of metastatic competence. Here we analyze sequencing data from 151 primary UM samples using a customized bioinformatic pipeline, to improve detection of BAP1 mutations and infer the clonal relationships among genomic aberrations. Strikingly, we find BAP1 mutations and other canonical genomic aberrations usually arise in an early punctuated burst, followed by neutral evolution extending to the time of clinical detection. This implies that the metastatic proclivity of UM is "set in stone" early in tumor evolution and may explain why advances in primary treatment have not improved survival. |
领域 | 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000419658100015 |
WOS关键词 | SOMATIC MUTATIONS ; TUMOR EVOLUTION ; CANCER ; PATTERNS ; SF3B1 ; GNAQ ; BAP1 ; IDENTIFICATION ; PHYLOGENY ; SURVIVAL |
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/203926 |
专题 | 资源环境科学 |
作者单位 | 1.Univ Miami, Miller Sch Med, Sylvester Comprehens Canc Ctr, Bascom Palmer Eye Inst, Miami, FL 33136 USA; 2.Univ Miami, Miller Sch Med, Interdisciplinary Stem Cell Inst, Miami, FL 33136 USA; 3.Imperial Coll London, Natl Heart & Lung Inst, London SW3 6LR, England |
推荐引用方式 GB/T 7714 | Field, Matthew G.,Durante, Michael A.,Anbunathan, Hima,et al. Punctuated evolution of canonical genomic aberrations in uveal melanoma[J]. NATURE COMMUNICATIONS,2018,9. |
APA | Field, Matthew G..,Durante, Michael A..,Anbunathan, Hima.,Cai, Louis Z..,Decatur, Christina L..,...&Harbour, J. William.(2018).Punctuated evolution of canonical genomic aberrations in uveal melanoma.NATURE COMMUNICATIONS,9. |
MLA | Field, Matthew G.,et al."Punctuated evolution of canonical genomic aberrations in uveal melanoma".NATURE COMMUNICATIONS 9(2018). |
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