{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T19:37:09Z","timestamp":1772134629087,"version":"3.50.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2005,7,24]],"date-time":"2005-07-24T00:00:00Z","timestamp":1122163200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2005,8]]},"DOI":"10.1038\/ng1612","type":"journal-article","created":{"date-parts":[[2005,7,24]],"date-time":"2005-07-24T13:46:38Z","timestamp":1122212798000},"page":"878-882","source":"Crossref","is-referenced-by-count":60,"title":["Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes"],"prefix":"10.1038","volume":"37","author":[{"given":"Qing","family":"Cheng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"WenJian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana C","family":"Raimondi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ching-Hon","family":"Pui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary V","family":"Relling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William E","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,7,24]]},"reference":[{"key":"BFng1612_CR1","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1038\/nature02626","volume":"429","author":"WE Evans","year":"2004","unstructured":"Evans, W.E. & Relling, M.V. Moving towards individualized medicine with pharmacogenomics. Nature 429, 464\u2013468 (2004).","journal-title":"Nature"},{"key":"BFng1612_CR2","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1056\/NEJMra020526","volume":"348","author":"WE Evans","year":"2003","unstructured":"Evans, W.E. & McLeod, H.L. Pharmacogenomics\u2013drug disposition, drug targets, and side effects. N. Engl. J. Med. 348, 538\u2013549 (2003).","journal-title":"N. Engl. J. Med."},{"key":"BFng1612_CR3","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1038\/nature03099","volume":"432","author":"H Rajagopalan","year":"2004","unstructured":"Rajagopalan, H. & Lengauer, C. Aneuploidy and cancer. Nature 432, 338\u2013341 (2004).","journal-title":"Nature"},{"key":"BFng1612_CR4","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.gde.2004.02.007","volume":"14","author":"VM Draviam","year":"2004","unstructured":"Draviam, V.M., Xie, S. & Sorger, P.K. Chromosome segregation and genomic stability. Curr. Opin. Genet. Dev. 14, 120\u2013125 (2004).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFng1612_CR5","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1056\/NEJMra023001","volume":"350","author":"CH Pui","year":"2004","unstructured":"Pui, C.H., Relling, M.V. & Downing, J.R. Acute lymphoblastic leukemia. N. Engl. J. Med. 350, 1535\u20131548 (2004).","journal-title":"N. Engl. J. Med."},{"key":"BFng1612_CR6","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1056\/NEJM199808273390907","volume":"339","author":"CH Pui","year":"1998","unstructured":"Pui, C.H. & Evans, W.E. Acute lymphoblastic leukemia. N. Engl. J. Med. 339, 605\u2013615 (1998).","journal-title":"N. Engl. J. Med."},{"key":"BFng1612_CR7","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1172\/JCI118409","volume":"97","author":"E Masson","year":"1996","unstructured":"Masson, E. et al. Accumulation of methotrexate polyglutamates in lymphoblasts is a determinant of antileukemic effects in vivo. A rationale for high-dose methotrexate. J. Clin. Invest. 97, 73\u201380 (1996).","journal-title":"J. Clin. Invest."},{"key":"BFng1612_CR8","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1016\/S0140-6736(94)92400-7","volume":"343","author":"JS Lilleyman","year":"1994","unstructured":"Lilleyman, J.S. & Lennard, L. Mercaptopurine metabolism and risk of relapse in childhood lymphoblastic leukaemia. Lancet 343, 1188\u20131190 (1994).","journal-title":"Lancet"},{"key":"BFng1612_CR9","first-page":"1141","volume":"47","author":"EY Krynetski","year":"1995","unstructured":"Krynetski, E.Y., Krynetskaia, N.F., Yanishevski, Y. & Evans, W.E. Methylation of mercaptopurine, thioguanine, and their nucleotide metabolites by heterologously expressed human thiopurine S-methyltransferase. Mol. Pharmacol. 47, 1141\u20131147 (1995).","journal-title":"Mol. Pharmacol."},{"key":"BFng1612_CR10","first-page":"2423","volume":"8","author":"JC Panetta","year":"2002","unstructured":"Panetta, J.C., Wall, A., Pui, C.H., Relling, M.V. & Evans, W.E. Methotrexate intracellular disposition in acute lymphoblastic leukemia: a mathematical model of gamma-glutamyl hydrolase activity. Clin. Cancer Res. 8, 2423\u20132429 (2002).","journal-title":"Clin. Cancer Res."},{"key":"BFng1612_CR11","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1182\/blood.V93.5.1643","volume":"93","author":"VM Belkov","year":"1999","unstructured":"Belkov, V.M. et al. Reduced folate carrier expression in acute lymphoblastic leukemia: a mechanism for ploidy but not lineage differences in methotrexate accumulation. Blood 93, 1643\u20131650 (1999).","journal-title":"Blood"},{"key":"BFng1612_CR12","first-page":"694","volume":"58","author":"HL Tai","year":"1996","unstructured":"Tai, H.L. et al. Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am. J. Hum. Genet. 58, 694\u2013702 (1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng1612_CR13","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1097\/01.fpc.0000114761.78957.7e","volume":"14","author":"Q Cheng","year":"2004","unstructured":"Cheng, Q. et al. A substrate specific functional polymorphism of human gamma-glutamyl hydrolase alters catalytic activity and methotrexate polyglutamate accumulation in acute lymphoblastic leukaemia cells. Pharmacogenetics 14, 557\u2013567 (2004).","journal-title":"Pharmacogenetics"},{"key":"BFng1612_CR14","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1006\/mgme.2000.3034","volume":"70","author":"A Chango","year":"2000","unstructured":"Chango, A. et al. A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol. Genet. Metab. 70, 310\u2013315 (2000).","journal-title":"Mol. Genet. Metab."},{"key":"BFng1612_CR15","doi-asserted-by":"publisher","first-page":"3010","DOI":"10.1182\/blood-2003-05-1444","volume":"102","author":"K Paulsson","year":"2003","unstructured":"Paulsson, K. et al. Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia. Blood 102, 3010\u20133015 (2003).","journal-title":"Blood"},{"key":"BFng1612_CR16","doi-asserted-by":"publisher","first-page":"1996","DOI":"10.1172\/JCI117552","volume":"94","author":"TW Synold","year":"1994","unstructured":"Synold, T.W. et al. Blast cell methotrexate-polyglutamate accumulation in vivo differs by lineage, ploidy, and methotrexate dose in acute lymphoblastic leukemia. J Clin Invest 94, 1996\u20132001 (1994).","journal-title":"J Clin Invest"},{"key":"BFng1612_CR17","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/S0092-8674(00)81683-9","volume":"100","author":"D Hanahan","year":"2000","unstructured":"Hanahan, D. & Weinberg, R.A. The hallmarks of cancer. Cell 100, 57\u201370 (2000).","journal-title":"Cell"},{"key":"BFng1612_CR18","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1038\/ng1215","volume":"34","author":"DG Albertson","year":"2003","unstructured":"Albertson, D.G., Collins, C., McCormick, F. & Gray, J.W. Chromosome aberrations in solid tumors. Nat. Genet. 34, 369\u2013376 (2003).","journal-title":"Nat. Genet."},{"key":"BFng1612_CR19","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1016\/S0959-8049(03)00265-X","volume":"39","author":"JP Baak","year":"2003","unstructured":"Baak, J.P. et al. Genomics and proteomics in cancer. Eur. J. Cancer 39, 1199\u20131215 (2003).","journal-title":"Eur. J. Cancer"},{"key":"BFng1612_CR20","doi-asserted-by":"publisher","first-page":"2623","DOI":"10.1200\/JCO.2004.11.014","volume":"22","author":"G Bardi","year":"2004","unstructured":"Bardi, G., Fenger, C., Johansson, B., Mitelman, F. & Heim, S. Tumor karyotype predicts clinical outcome in colorectal cancer patients. J. Clin. Oncol. 22, 2623\u20132634 (2004).","journal-title":"J. Clin. Oncol."},{"key":"BFng1612_CR21","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1097\/01.MP.0000024290.55261.14","volume":"15","author":"D Mayr","year":"2002","unstructured":"Mayr, D. et al. Characteristic pattern of genetic aberrations in ovarian granulosa cell tumors. Mod. Pathol. 15, 951\u2013957 (2002).","journal-title":"Mod. Pathol."},{"key":"BFng1612_CR22","first-page":"1263","volume":"19","author":"I Verdorfer","year":"2001","unstructured":"Verdorfer, I. et al. Combined study of prostatic carcinoma by classical cytogenetic analysis and comparative genomic hybridization. Int. J. Oncol. 19, 1263\u20131270 (2001).","journal-title":"Int. J. Oncol."},{"key":"BFng1612_CR23","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1097\/00001622-200401000-00006","volume":"16","author":"SM Gollin","year":"2004","unstructured":"Gollin, S.M. Chromosomal instability. Curr. Opin. Oncol. 16, 25\u201331 (2004).","journal-title":"Curr. Opin. Oncol."},{"key":"BFng1612_CR24","doi-asserted-by":"publisher","first-page":"6884","DOI":"10.1038\/sj.onc.1205566","volume":"21","author":"A Masuda","year":"2002","unstructured":"Masuda, A. & Takahashi, T. Chromosome instability in human lung cancers: possible underlying mechanisms and potential consequences in the pathogenesis. Oncogene 21, 6884\u20136897 (2002).","journal-title":"Oncogene"},{"key":"BFng1612_CR25","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1002\/cncr.20743","volume":"103","author":"GK Rivera","year":"2005","unstructured":"Rivera, G.K. et al. Bone marrow recurrence after initial intensive treatment for childhood acute lymphoblastic leukemia. Cancer 103, 368\u2013376 (2005).","journal-title":"Cancer"},{"key":"BFng1612_CR26","doi-asserted-by":"publisher","first-page":"3249","DOI":"10.1093\/hmg\/11.26.3249","volume":"11","author":"DR FitzPatrick","year":"2002","unstructured":"FitzPatrick, D.R. et al. Transcriptome analysis of human autosomal trisomy. Hum. Mol. Genet. 11, 3249\u20133256 (2002).","journal-title":"Hum. Mol. Genet."},{"issue":"Suppl. 1","key":"BFng1612_CR27","first-page":"S124","volume":"83","author":"CH Pui","year":"2004","unstructured":"Pui, C.H. et al. Rationale and design of Total Therapy Study XV for newly diagnosed childhood acute lymphoblastic leukemia. Ann. Hematol. 83 Suppl. 1, S124\u2013S126 (2004).","journal-title":"Ann. Hematol."},{"key":"BFng1612_CR28","volume-title":"An International System for Human Cytogenetic Nomenclature","author":"F Mitelman","year":"1995","unstructured":"Mitelman, F. An International System for Human Cytogenetic Nomenclature (Karger, Basel, 1995)."},{"key":"BFng1612_CR29","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1093\/clinchem\/48.1.61","volume":"48","author":"T Dervieux","year":"2002","unstructured":"Dervieux, T. et al. HPLC determination of thiopurine nucleosides and nucleotides in vivo in lymphoblasts following mercaptopurine therapy. Clin. Chem. 48, 61\u201368 (2002).","journal-title":"Clin. Chem."},{"key":"BFng1612_CR30","doi-asserted-by":"publisher","first-page":"608","DOI":"10.7326\/0003-4819-126-8-199704150-00003","volume":"126","author":"CR Yates","year":"1997","unstructured":"Yates, C.R. et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann. Intern. Med. 126, 608\u2013614 (1997).","journal-title":"Ann. Intern. Med."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1612.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1612","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1612.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T18:09:47Z","timestamp":1684433387000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7,24]]},"references-count":30,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2005,8]]}},"alternative-id":["BFng1612"],"URL":"https:\/\/doi.org\/10.1038\/ng1612","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1040358.489318","asserted-by":"object"}]},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7,24]]}}}