{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T06:35:44Z","timestamp":1791182144085,"version":"4.1.0"},"reference-count":60,"publisher":"National Academy of Sciences","issue":"6","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2000,3,14]]},"abstract":"<jats:p>\n                    In mantle cell lymphoma (MCL), the translocation t(11;14) is\n considered the cytogenetic hallmark of the disease. Recently, however,\n deletion of the chromosomal region 11q22-q23 has been identified as a\n frequent event in this type of cancer, indicating the existence of a\n pathogenically relevant tumor suppressor gene in this region. The\n deleted segment contains the\n                    <jats:italic>ATM<\/jats:italic>\n                    (ataxia telangiectasia\n mutated) gene.\n                    <jats:italic>ATM<\/jats:italic>\n                    is an interesting candidate as a\n tumor suppressor gene because constitutive inactivation of the gene\n predisposes ataxia telangiectasia patients to lymphoid malignancies. To\n assess the potential involvement of the gene in MCL lymphomagenesis, we\n performed mutation analysis of\n                    <jats:italic>ATM<\/jats:italic>\n                    in 12 sporadic cases\n of MCL, 7 of them with a deletion of one\n                    <jats:italic>ATM<\/jats:italic>\n                    gene copy,\n by using single-strand conformation polymorphism analysis of reverse\n transcription\u2013PCR-amplified mRNA and subsequent DNA sequencing. In all\n seven cases containing a deletion of one\n                    <jats:italic>ATM<\/jats:italic>\n                    allele, a\n point mutation in the remaining allele was detected, which resulted in\n aberrant transcript splicing, truncation, or alteration of the protein.\n In addition, biallelic\n                    <jats:italic>ATM<\/jats:italic>\n                    mutations were identified in\n two MCLs that did not contain 11q deletions. Interestingly, in three\n cases analyzed, the\n                    <jats:italic>ATM<\/jats:italic>\n                    mutations detected in the tumor\n cells were not present in nonmalignant cells, demonstrating their\n somatic rather than germ-line origin. The inactivation of both alleles\n of the\n                    <jats:italic>ATM<\/jats:italic>\n                    gene by deletion and deleterious point mutation\n in the majority of cases analyzed indicates that\n                    <jats:italic>ATM<\/jats:italic>\n                    plays a role in the initiation and\/or progression of MCL.\n                  <\/jats:p>","DOI":"10.1073\/pnas.050400997","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:40:52Z","timestamp":1027680052000},"page":"2773-2778","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":201,"title":["Mantle cell lymphoma is characterized by inactivation of the\n                    <i>ATM<\/i>\n                    gene"],"prefix":"10.1073","volume":"97","author":[{"given":"Claudia","family":"Schaffner","sequence":"first","affiliation":[{"name":"Abteilung \u201cOrganisation komplexer Genome,\u201d Deutsches\r Krebsforschungszentrum, Im Neuenheimer Feld 280, D-69120 Heidelberg,\r Germany; and Department of Internal Medicine III,\r University of Ulm, Robert-Koch-Strasse 8, D-89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Idler","sequence":"additional","affiliation":[{"name":"Abteilung \u201cOrganisation komplexer Genome,\u201d Deutsches\r Krebsforschungszentrum, Im Neuenheimer Feld 280, D-69120 Heidelberg,\r Germany; and Department of Internal Medicine III,\r University of Ulm, Robert-Koch-Strasse 8, D-89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Stilgenbauer","sequence":"additional","affiliation":[{"name":"Abteilung \u201cOrganisation komplexer Genome,\u201d Deutsches\r Krebsforschungszentrum, Im Neuenheimer Feld 280, D-69120 Heidelberg,\r Germany; and Department of Internal Medicine III,\r University of Ulm, Robert-Koch-Strasse 8, D-89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut","family":"D\u00f6hner","sequence":"additional","affiliation":[{"name":"Abteilung \u201cOrganisation komplexer Genome,\u201d Deutsches\r Krebsforschungszentrum, Im Neuenheimer Feld 280, D-69120 Heidelberg,\r Germany; and Department of Internal Medicine III,\r University of Ulm, Robert-Koch-Strasse 8, D-89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lichter","sequence":"additional","affiliation":[{"name":"Abteilung \u201cOrganisation komplexer Genome,\u201d Deutsches\r Krebsforschungszentrum, Im Neuenheimer Feld 280, D-69120 Heidelberg,\r Germany; and Department of Internal Medicine III,\r University of Ulm, Robert-Koch-Strasse 8, D-89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2000,3,7]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1980.27"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.11.4483.bloodjournal87114483"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1991.tb08582.x"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1992.tb08209.x"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.6610211"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9638"},{"key":"e_1_3_3_7_2","first-page":"4846","volume":"11","author":"Withers D A","year":"1991","unstructured":"D A Withers, R C Harvey, J B Faust, O Melnyk, K Carey, T C Meeker Mol Cell Biol 11, 4846\u20134853 (1991).","journal-title":"Mol Cell Biol"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V81.11.3063.3063"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V84.8.2726.2726"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.274.5293.1672"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06488.x"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06655.x"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.10.4302.bloodjournal87104302"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.8.3351.bloodjournal8783351"},{"key":"e_1_3_3_15_2","first-page":"4608","volume":"57","author":"Dreyling M H","year":"1997","unstructured":"M H Dreyling, L Bullinger, G Ott, S Stilgenbauer, H K M\u00fcller-Hermelink, M Bentz, W Hiddemann, H D\u00f6hner Cancer Res 57, 4608\u20134614 (1997).","journal-title":"Cancer Res"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V89.1.272"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199804)21:4<298::AID-GCC3>3.0.CO;2-U"},{"key":"e_1_3_3_18_2","first-page":"4365","volume":"93","author":"Bea S","year":"1999","unstructured":"S Bea, M Ribas, J M Hernandez, F Bosch, M Pinyol, L Hernandez, J L Garcia, T Flores, M Gonzalez, A Lopez-Guillermo, et al. 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