{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T05:16:32Z","timestamp":1790054192266,"version":"4.0.1"},"reference-count":53,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thymomas are low\u2010grade epithelial cancers of the thymus whose prevalence varies between 0.1\/100,000 and 0.4\/100,000. Familial occurrence of thymoma is very rare. We studied a family bearing the constitutional chromosome translocation t(14;20)(q24;p12), 3 of whose members had a thymoma. In this family, among 27 patients, 11 had the translocation: 3 had thymoma and 4 others had 5 different autoimmune diseases: type 1 diabetes mellitus, Graves' disease, pernicious anemia, primitive Sj\u00f6gren disease, and autoimmune pancytopenia. FISH studies allowed us to be more specific about the translocation breakpoints. The 14q24 breakpoint was in intron 5 of <jats:italic>RAD51L1<\/jats:italic>, and the 20p12 breakpoint was 100 kb telomeric to <jats:italic>BMP2<\/jats:italic>. <jats:italic>RAD51L1<\/jats:italic> is a tumor\u2010suppressor gene belonging to the <jats:italic>RAD51<\/jats:italic> family, already implicated in many tumors (uterine leiomyomas, pseudo\u2010Meigs syndromes, pulmonary chondroid hamartomas) and involved in recombinational repair of DNA double\u2010strand breaks. <jats:italic>BMP2<\/jats:italic> belongs to the <jats:italic>TGF<\/jats:italic>\u03b2 superfamily, and the <jats:italic>BMP2<\/jats:italic>\u2013<jats:italic>BMP4<\/jats:italic> genes are involved in thymocyte differentiation by blocking progression from CD4\u2212CD8\u2212 to CD4+CD8+ while maintaining a sufficient pool of immature precursors. Dysregulation of <jats:italic>RAD51L1<\/jats:italic> and\/or <jats:italic>BMP2<\/jats:italic> may explain this familial occurrence of thymomas and autoimmune diseases. Using QRT\u2010PCR, we studied the expression of <jats:italic>BMP2<\/jats:italic> in 20 sporadic thymomas and found various levels of expression that may be associated with autoimmune diseases. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20225","type":"journal-article","created":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T20:17:13Z","timestamp":1118175433000},"page":"154-160","source":"Crossref","is-referenced-by-count":16,"title":["Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3)"],"prefix":"10.1002","volume":"44","author":[{"given":"Fr\u00e9d\u00e9ric","family":"Nicod\u00e8me","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Geffroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Conti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Delobel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Soenen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Grardel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Porte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Christine","family":"Copin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Luc","family":"La\u00ef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris","family":"Andrieux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M313531200"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.1197"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-4975(10)63498-4"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000057011"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5223(98)70273-9"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870060410"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(96)00028-3"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203283"},{"key":"e_1_2_6_10_1","first-page":"72","article-title":"Familial 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