DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

被引:0
|
作者
Timothy J. Ley
Elaine R. Mardis
Li Ding
Bob Fulton
Michael D. McLellan
Ken Chen
David Dooling
Brian H. Dunford-Shore
Sean McGrath
Matthew Hickenbotham
Lisa Cook
Rachel Abbott
David E. Larson
Dan C. Koboldt
Craig Pohl
Scott Smith
Amy Hawkins
Scott Abbott
Devin Locke
LaDeana W. Hillier
Tracie Miner
Lucinda Fulton
Vincent Magrini
Todd Wylie
Jarret Glasscock
Joshua Conyers
Nathan Sander
Xiaoqi Shi
John R. Osborne
Patrick Minx
David Gordon
Asif Chinwalla
Yu Zhao
Rhonda E. Ries
Jacqueline E. Payton
Peter Westervelt
Michael H. Tomasson
Mark Watson
Jack Baty
Jennifer Ivanovich
Sharon Heath
William D. Shannon
Rakesh Nagarajan
Matthew J. Walter
Daniel C. Link
Timothy A. Graubert
John F. DiPersio
Richard K. Wilson
机构
[1] Department of Medicine,Division of Biostatistics
[2] ,Department of Surgery
[3] Department of Genetics,Department of Genome Sciences
[4] ,undefined
[5] The Genome Center at Washington University,undefined
[6] ,undefined
[7] Siteman Cancer Center,undefined
[8] ,undefined
[9] Department of Pathology and Immunology,undefined
[10] ,undefined
[11] and,undefined
[12] Washington University School of Medicine,undefined
[13] St. Louis,undefined
[14] Missouri 63108,undefined
[15] USA,undefined
[16] University of Washington,undefined
[17] Seattle,undefined
[18] Washington 98195,undefined
[19] USA,undefined
来源
Nature | 2008年 / 456卷
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摘要
Acute myeloid leukaemia is a highly malignant haematopoietic tumour that affects about 13,000 adults in the United States each year. The treatment of this disease has changed little in the past two decades, because most of the genetic events that initiate the disease remain undiscovered. Whole-genome sequencing is now possible at a reasonable cost and timeframe to use this approach for the unbiased discovery of tumour-specific somatic mutations that alter the protein-coding genes. Here we present the results obtained from sequencing a typical acute myeloid leukaemia genome, and its matched normal counterpart obtained from the same patient’s skin. We discovered ten genes with acquired mutations; two were previously described mutations that are thought to contribute to tumour progression, and eight were new mutations present in virtually all tumour cells at presentation and relapse, the function of which is not yet known. Our study establishes whole-genome sequencing as an unbiased method for discovering cancer-initiating mutations in previously unidentified genes that may respond to targeted therapies.
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页码:66 / 72
页数:6
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