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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

Author

Listed:
  • Timothy J. Ley

    (Department of Medicine,
    Department of Genetics,
    The Genome Center at Washington University,
    Siteman Cancer Center,)

  • Elaine R. Mardis

    (Department of Genetics,
    The Genome Center at Washington University,)

  • Li Ding

    (Department of Genetics,
    The Genome Center at Washington University,)

  • Bob Fulton

    (The Genome Center at Washington University,)

  • Michael D. McLellan

    (The Genome Center at Washington University,)

  • Ken Chen

    (The Genome Center at Washington University,)

  • David Dooling

    (The Genome Center at Washington University,)

  • Brian H. Dunford-Shore

    (The Genome Center at Washington University,)

  • Sean McGrath

    (The Genome Center at Washington University,)

  • Matthew Hickenbotham

    (The Genome Center at Washington University,)

  • Lisa Cook

    (The Genome Center at Washington University,)

  • Rachel Abbott

    (The Genome Center at Washington University,)

  • David E. Larson

    (The Genome Center at Washington University,)

  • Dan C. Koboldt

    (The Genome Center at Washington University,)

  • Craig Pohl

    (The Genome Center at Washington University,)

  • Scott Smith

    (The Genome Center at Washington University,)

  • Amy Hawkins

    (The Genome Center at Washington University,)

  • Scott Abbott

    (The Genome Center at Washington University,)

  • Devin Locke

    (The Genome Center at Washington University,)

  • LaDeana W. Hillier

    (The Genome Center at Washington University,
    University of Washington, Seattle, Washington 98195, USA)

  • Tracie Miner

    (The Genome Center at Washington University,)

  • Lucinda Fulton

    (The Genome Center at Washington University,)

  • Vincent Magrini

    (Department of Genetics,
    The Genome Center at Washington University,)

  • Todd Wylie

    (The Genome Center at Washington University,)

  • Jarret Glasscock

    (The Genome Center at Washington University,)

  • Joshua Conyers

    (The Genome Center at Washington University,)

  • Nathan Sander

    (The Genome Center at Washington University,)

  • Xiaoqi Shi

    (The Genome Center at Washington University,)

  • John R. Osborne

    (The Genome Center at Washington University,)

  • Patrick Minx

    (The Genome Center at Washington University,)

  • David Gordon

    (University of Washington, Seattle, Washington 98195, USA)

  • Asif Chinwalla

    (The Genome Center at Washington University,)

  • Yu Zhao

    (Department of Medicine,)

  • Rhonda E. Ries

    (Department of Medicine,)

  • Jacqueline E. Payton

    (Department of Pathology and Immunology,)

  • Peter Westervelt

    (Department of Medicine,
    Siteman Cancer Center,)

  • Michael H. Tomasson

    (Department of Medicine,
    Siteman Cancer Center,)

  • Mark Watson

    (The Genome Center at Washington University,
    Siteman Cancer Center,
    Department of Pathology and Immunology,)

  • Jack Baty

    (and)

  • Jennifer Ivanovich

    (Siteman Cancer Center,
    Washington University School of Medicine, St. Louis, Missouri 63108, USA)

  • Sharon Heath

    (Department of Medicine,
    Siteman Cancer Center,)

  • William D. Shannon

    (Department of Medicine,
    Siteman Cancer Center,)

  • Rakesh Nagarajan

    (Siteman Cancer Center,
    Department of Pathology and Immunology,)

  • Matthew J. Walter

    (Department of Medicine,
    Siteman Cancer Center,)

  • Daniel C. Link

    (Department of Medicine,
    Siteman Cancer Center,)

  • Timothy A. Graubert

    (Department of Medicine,
    Siteman Cancer Center,)

  • John F. DiPersio

    (Department of Medicine,
    Siteman Cancer Center,)

  • Richard K. Wilson

    (Department of Genetics,
    The Genome Center at Washington University,
    Siteman Cancer Center,)

Abstract

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.

Suggested Citation

  • 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 & D, 2008. "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome," Nature, Nature, vol. 456(7218), pages 66-72, November.
    • Handle: RePEc:nat:nature:v:456:y:2008:i:7218:d:10.1038_nature07485
    DOI: 10.1038/nature07485
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    Cited by:

    1. Sandor Spisak & Viktoria Tisza & Pier Vitale Nuzzo & Ji-Heui Seo & Balint Pataki & Dezso Ribli & Zsofia Sztupinszki & Connor Bell & Mersedeh Rohanizadegan & David R. Stillman & Sarah Abou Alaiwi & Ala, 2023. "A biallelic multiple nucleotide length polymorphism explains functional causality at 5p15.33 prostate cancer risk locus," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    2. Moritz Gerstung & Niko Beerenwinkel, 2010. "Waiting Time Models of Cancer Progression," Mathematical Population Studies, Taylor & Francis Journals, vol. 17(3), pages 115-135.
    3. Zheng Xu & Song Yan & Shuai Yuan & Cong Wu & Sixia Chen & Zifang Guo & Yun Li, 2023. "Efficient Two-Stage Analysis for Complex Trait Association with Arbitrary Depth Sequencing Data," Stats, MDPI, vol. 6(1), pages 1-14, March.

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