DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Export

@article{citeulike:3483369, 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.}, author = {Ley, Timothy J. and Mardis, Elaine R. and Ding, Li and Fulton, Bob and McLellan, Michael D. and Chen, Ken and Dooling, David and Dunford-Shore, Brian H. and McGrath, Sean and Hickenbotham, Matthew and Cook, Lisa and Abbott, Rachel and Larson, David E. and Koboldt, Dan C. and Pohl, Craig and Smith, Scott and Hawkins, Amy and Abbott, Scott and Locke, Devin and Hillier, Ladeana W. and Miner, Tracie and Fulton, Lucinda and Magrini, Vincent and Wylie, Todd and Glasscock, Jarret and Conyers, Joshua and Sander, Nathan and Shi, Xiaoqi and Osborne, John R. and Minx, Patrick and Gordon, David and Chinwalla, Asif and Zhao, Yu and Ries, Rhonda E. and Payton, Jacqueline E. and Westervelt, Peter and Tomasson, Michael H. and Watson, Mark and Baty, Jack and Ivanovich, Jennifer and Heath, Sharon and Shannon, William D. and Nagarajan, Rakesh and Walter, Matthew J. and Link, Daniel C. and Graubert, Timothy A. and DiPersio, John F. and Wilson, Richard K.}, citeulike-article-id = {3483369}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/nature07485}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/nature07485}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/18987736}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=18987736}, day = {6}, doi = {10.1038/nature07485}, issn = {1476-4687}, journal = {Nature}, keywords = {cancer, resequencing, whole\_genome\_seq}, month = {November}, number = {7218}, pages = {66--72}, posted-at = {2008-11-05 21:59:25}, priority = {3}, publisher = {Nature Publishing Group}, title = {DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.}, url = {http://dx.doi.org/10.1038/nature07485}, volume = {456}, year = {2008} }

TY - JOUR ID - citeulike:3483369 L3 - citeulike-article-id:3483369 N2 - 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. IS - 7218 JF - Nature SN - 1476-4687 EP - 72 TI - DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. PB - Nature Publishing Group VL - 456 SP - 66 KW - cancer KW - resequencing KW - whole_genome_seq AU - Ley, Timothy AU - Mardis, Elaine AU - Ding, Li AU - Fulton, Bob AU - McLellan, Michael AU - Chen, Ken AU - Dooling, David AU - Dunford-Shore, Brian AU - McGrath, Sean AU - Hickenbotham, Matthew AU - Cook, Lisa AU - Abbott, Rachel AU - Larson, David AU - Koboldt, Dan AU - Pohl, Craig AU - Smith, Scott AU - Hawkins, Amy AU - Abbott, Scott AU - Locke, Devin AU - Hillier, Ladeana AU - Miner, Tracie AU - Fulton, Lucinda AU - Magrini, Vincent AU - Wylie, Todd AU - Glasscock, Jarret AU - Conyers, Joshua AU - Sander, Nathan AU - Shi, Xiaoqi AU - Osborne, John AU - Minx, Patrick AU - Gordon, David AU - Chinwalla, Asif AU - Zhao, Yu AU - Ries, Rhonda AU - Payton, Jacqueline AU - Westervelt, Peter AU - Tomasson, Michael AU - Watson, Mark AU - Baty, Jack AU - Ivanovich, Jennifer AU - Heath, Sharon AU - Shannon, William AU - Nagarajan, Rakesh AU - Walter, Matthew AU - Link, Daniel AU - Graubert, Timothy AU - DiPersio, John AU - Wilson, Richard PY - 2008/11/06/ UR - http://dx.doi.org/10.1038/nature07485 ER -