PMID- 18987736
OWN - NLM
STAT- MEDLINE
DCOM- 20081204
LR  - 20220330
IS  - 1476-4687 (Electronic)
IS  - 0028-0836 (Print)
IS  - 0028-0836 (Linking)
VI  - 456
IP  - 7218
DP  - 2008 Nov 6
TI  - DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
PG  - 66-72
LID - 10.1038/nature07485 [doi]
AB  - 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.
FAU - Ley, Timothy J
AU  - Ley TJ
AD  - Department of Medicine, Washington University School of Medicine, St. Louis, 
      Missouri 63108, USA.
FAU - Mardis, Elaine R
AU  - Mardis ER
FAU - Ding, Li
AU  - Ding L
FAU - Fulton, Bob
AU  - Fulton B
FAU - McLellan, Michael D
AU  - McLellan MD
FAU - Chen, Ken
AU  - Chen K
FAU - Dooling, David
AU  - Dooling D
FAU - Dunford-Shore, Brian H
AU  - Dunford-Shore BH
FAU - McGrath, Sean
AU  - McGrath S
FAU - Hickenbotham, Matthew
AU  - Hickenbotham M
FAU - Cook, Lisa
AU  - Cook L
FAU - Abbott, Rachel
AU  - Abbott R
FAU - Larson, David E
AU  - Larson DE
FAU - Koboldt, Dan C
AU  - Koboldt DC
FAU - Pohl, Craig
AU  - Pohl C
FAU - Smith, Scott
AU  - Smith S
FAU - Hawkins, Amy
AU  - Hawkins A
FAU - Abbott, Scott
AU  - Abbott S
FAU - Locke, Devin
AU  - Locke D
FAU - Hillier, Ladeana W
AU  - Hillier LW
FAU - Miner, Tracie
AU  - Miner T
FAU - Fulton, Lucinda
AU  - Fulton L
FAU - Magrini, Vincent
AU  - Magrini V
FAU - Wylie, Todd
AU  - Wylie T
FAU - Glasscock, Jarret
AU  - Glasscock J
FAU - Conyers, Joshua
AU  - Conyers J
FAU - Sander, Nathan
AU  - Sander N
FAU - Shi, Xiaoqi
AU  - Shi X
FAU - Osborne, John R
AU  - Osborne JR
FAU - Minx, Patrick
AU  - Minx P
FAU - Gordon, David
AU  - Gordon D
FAU - Chinwalla, Asif
AU  - Chinwalla A
FAU - Zhao, Yu
AU  - Zhao Y
FAU - Ries, Rhonda E
AU  - Ries RE
FAU - Payton, Jacqueline E
AU  - Payton JE
FAU - Westervelt, Peter
AU  - Westervelt P
FAU - Tomasson, Michael H
AU  - Tomasson MH
FAU - Watson, Mark
AU  - Watson M
FAU - Baty, Jack
AU  - Baty J
FAU - Ivanovich, Jennifer
AU  - Ivanovich J
FAU - Heath, Sharon
AU  - Heath S
FAU - Shannon, William D
AU  - Shannon WD
FAU - Nagarajan, Rakesh
AU  - Nagarajan R
FAU - Walter, Matthew J
AU  - Walter MJ
FAU - Link, Daniel C
AU  - Link DC
FAU - Graubert, Timothy A
AU  - Graubert TA
FAU - DiPersio, John F
AU  - DiPersio JF
FAU - Wilson, Richard K
AU  - Wilson RK
LA  - eng
GR  - U54 HG002042-05/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Nature
JT  - Nature
JID - 0410462
SB  - IM
MH  - Case-Control Studies
MH  - Disease Progression
MH  - Gene Expression Profiling
MH  - Gene Expression Regulation, Neoplastic/*genetics
MH  - Genome, Human/*genetics
MH  - Genomics
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Mutagenesis, Insertional
MH  - Mutation
MH  - Polymorphism, Single Nucleotide
MH  - Recurrence
MH  - Sequence Analysis, DNA
MH  - Sequence Deletion
MH  - Skin/metabolism
PMC - PMC2603574
MID - NIHMS71093
EDAT- 2008/11/07 09:00
MHDA- 2008/12/17 09:00
PMCR- 2009/05/06
CRDT- 2008/11/07 09:00
PHST- 2008/05/28 00:00 [received]
PHST- 2008/09/16 00:00 [accepted]
PHST- 2008/11/07 09:00 [pubmed]
PHST- 2008/12/17 09:00 [medline]
PHST- 2008/11/07 09:00 [entrez]
PHST- 2009/05/06 00:00 [pmc-release]
AID - nature07485 [pii]
AID - 10.1038/nature07485 [doi]
PST - ppublish
SO  - Nature. 2008 Nov 6;456(7218):66-72. doi: 10.1038/nature07485.