{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T22:16:20Z","timestamp":1791411380023,"version":"4.3.3"},"reference-count":31,"publisher":"National Academy of Sciences","issue":"7","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2006,2,14]]},"abstract":"<jats:p>\n                    Although mantle cell lymphoma (MCL) frequently harbors inactivated\n                    <jats:italic>ataxia telangiectasia mutated<\/jats:italic>\n                    (\n                    <jats:italic>ATM<\/jats:italic>\n                    ) and\n                    <jats:italic>p53<\/jats:italic>\n                    alleles, little is known about the molecular phenotypes caused by these genetic changes. We identified point mutations and genomic deletions in these genes in a series of cyclin D1-positive MCL cases and correlated genotype with gene expression profiles and overall survival. Mutated and\/or deleted\n                    <jats:italic>ATM<\/jats:italic>\n                    and\n                    <jats:italic>p53<\/jats:italic>\n                    alleles were found in 56% (40\/72) and 26% (21\/82) of the cases examined, respectively. Although MCL patients with inactive\n                    <jats:italic>p53<\/jats:italic>\n                    alleles showed a significant reduction in median overall survival, aberrant\n                    <jats:italic>ATM<\/jats:italic>\n                    status did not predict for survival. Nevertheless, specific gene expression signatures indicative of the mutation and genomic deletion status of each gene were identified that were different from wild-type cases. These signatures were comprised of a select group of genes related to apoptosis, stress responses, and cell cycle regulation that are relevant to\n                    <jats:italic>ATM<\/jats:italic>\n                    or\n                    <jats:italic>p53<\/jats:italic>\n                    function. Importantly, we found the molecular signatures are different between cases with mutations and deletions, because the latter are characterized by loss of genes colocalized in the same chromosome region of\n                    <jats:italic>ATM<\/jats:italic>\n                    or\n                    <jats:italic>p53<\/jats:italic>\n                    . This information on molecular phenotypes may provide new areas of investigation for\n                    <jats:italic>ATM<\/jats:italic>\n                    function or may be exploited by designing specific therapies for MCL cases with\n                    <jats:italic>p53<\/jats:italic>\n                    aberrations.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0510441103","type":"journal-article","created":{"date-parts":[[2006,2,3]],"date-time":"2006-02-03T20:48:52Z","timestamp":1138999732000},"page":"2352-2357","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":137,"title":["Mutation and genomic deletion status of\n                    <i>ataxia telangiectasia mutated<\/i>\n                    (\n                    <i>ATM<\/i>\n                    ) and\n                    <i>p53<\/i>\n                    confer specific gene expression profiles in mantle cell lymphoma"],"prefix":"10.1073","volume":"103","author":[{"given":"Timothy C.","family":"Greiner","sequence":"first","affiliation":[{"name":"*Departments of Pathology and Microbiology, Preventive and Societal Medicine, and Internal Medicine, University of Nebraska Medical Center, Omaha, NE 68198;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiranjib","family":"Dasgupta","sequence":"additional","affiliation":[{"name":"Institute for Genetic Medicine, University of Southern California, Los Angeles, CA 90089;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent V.","family":"Ho","sequence":"additional","affiliation":[{"name":"Institute for Genetic Medicine, University of Southern California, Los Angeles, CA 90089;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis D.","family":"Weisenburger","sequence":"additional","affiliation":[{"name":"*Departments of Pathology and Microbiology, Preventive and Societal Medicine, and Internal Medicine, University of Nebraska Medical Center, Omaha, NE 68198;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynette M.","family":"Smith","sequence":"additional","affiliation":[{"name":"*Departments of Pathology and Microbiology, Preventive and Societal Medicine, and Internal Medicine, University of Nebraska Medical Center, Omaha, NE 68198;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Lynch","sequence":"additional","affiliation":[{"name":"*Departments of Pathology and Microbiology, Preventive and Societal Medicine, and Internal Medicine, University of Nebraska Medical Center, Omaha, NE 68198;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie M.","family":"Vose","sequence":"additional","affiliation":[{"name":"*Departments of Pathology and Microbiology, Preventive and Societal Medicine, and Internal Medicine, University of Nebraska Medical Center, Omaha, NE 68198;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Fu","sequence":"additional","affiliation":[{"name":"*Departments of Pathology and Microbiology, Preventive and Societal Medicine, and Internal Medicine, University of Nebraska Medical Center, Omaha, NE 68198;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James O.","family":"Armitage","sequence":"additional","affiliation":[{"name":"*Departments of Pathology and Microbiology, Preventive and Societal Medicine, and Internal Medicine, University of Nebraska Medical Center, Omaha, NE 68198;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita M.","family":"Braziel","sequence":"additional","affiliation":[{"name":"Department of Pathology, Oregon Health &amp; Science University, Portland, OR 97239;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elias","family":"Campo","sequence":"additional","affiliation":[{"name":"Hematopathology Section, University of Barcelona, 08036 Barcelona, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Delabie","sequence":"additional","affiliation":[{"name":"Pathology Department, Norwegian Radium Hospital, N-0310 Oslo, Norway;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randy D.","family":"Gascoyne","sequence":"additional","affiliation":[{"name":"**Pathology Department, British Columbia Cancer Agency, Vancouver, BC, Canada V52 4E6;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine S.","family":"Jaffe","sequence":"additional","affiliation":[{"name":"Metabolism Branch and Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans K.","family":"Muller-Hermelink","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University of Wurzburg, D-97080 Wurzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"German","family":"Ott","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University of Wurzburg, D-97080 Wurzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Rosenwald","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University of Wurzburg, D-97080 Wurzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis M.","family":"Staudt","sequence":"additional","affiliation":[{"name":"Metabolism Branch and Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael Y.","family":"Im","sequence":"additional","affiliation":[{"name":"Institute for Genetic Medicine, University of Southern California, Los Angeles, CA 90089;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazen W.","family":"Karaman","sequence":"additional","affiliation":[{"name":"Institute for Genetic Medicine, University of Southern California, Los Angeles, CA 90089;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian L.","family":"Pike","sequence":"additional","affiliation":[{"name":"Institute for Genetic Medicine, University of Southern California, Los Angeles, CA 90089;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wing C.","family":"Chan","sequence":"additional","affiliation":[{"name":"*Departments of Pathology and Microbiology, Preventive and Societal Medicine, and Internal Medicine, University of Nebraska Medical Center, Omaha, NE 68198;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Hacia","sequence":"additional","affiliation":[{"name":"Institute for Genetic Medicine, University of Southern California, Los Angeles, CA 90089;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2006,2,3]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008265532487"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-003-0774-2"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8652(200007)64:3<190::AID-AJH9>3.0.CO;2-B"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1535-6108(03)00028-X"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1053\/hupa.2002.30221"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.10.4302.bloodjournal87104302"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0831102100"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.8.3351.bloodjournal8783351"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.54.7.512"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/1042819021000002884"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.1.238"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V94.9.3262.421a33_3262_3264"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.050400997"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.3109\/10428190109057924"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-07-2730"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208300"},{"key":"e_1_3_3_17_2","first-page":"314","volume":"89","author":"Tort F.","year":"2004","unstructured":"F. 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