| Clinics and Pathology |
| Disease | Non Hodgkin lymphoma |
| Clinics | The t(3;9)(q27;p24) was found in a gastric lymphoma, from a study with no individual data (Chen et al., 2006). |
| Genes involved and Proteins |
| Gene Name | BCL6 |
| Location | 3q27.3 |
| Protein | 706 amino acids; composed of a NH2-term BTB/POZ domain (amino acids 1-130 (32-99 according to Swiss-Prot) which mediates homodimerization and protein-protein interactions with other corepressors (including HDAC1 and NCOR2/SMRT to constitute a large repressing complex, another transcription repression domain (191-386), PEST sequences (300-417) with a KKYK motif (375-379), and six zinc finger at the C-term (518-541, 546-568, 574-596, 602-624, 630-652, 658-681), responsible for sequence specific DNA binding. Transcription repressor; recognizes the consensus sequence: TTCCT(A/C)GAA (Albagli-Curiel, 2003). Role in germinal centers of lymphoid follicles. BCL6 prevents ATM and TP53 to induce apoptosis in response to DNA rearrangements such as somatic hypermutation and class switch recombination. Therefore essential for normal B cell development. |
| Gene Name | DMRT1 |
| Location | 9p24.3 |
| Protein | Transcription factor that plays a key role in male sex determination in various animal species including homo sapiens (Herpin and Schartl, 2011). Susceptibility locus for testicular germ cell tumor (Turnbull et al., 2010). |
| Result of the chromosomal anomaly |
| Description | The breakpoint in DMRT1 is between exons 3 and 4, and between exon 1 and 2 in BCL6. 5' DMRT1-3' BCL6. |
| External links |
| Other database | t(3;9)(q27;p24) DMRT1/BCL6 | Mitelman database (CGAP - NCBI) |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Ambivalent role of BCL6 in cell survival and transformation. |
| Albagli-Curiel O. |
| Oncogene. 2003 Jan 30;22(4):507-16. |
| PMID 12555064 |
| High BCL6 expression predicts better prognosis, independent of BCL6 translocation status, translocation partner, or BCL6-deregulating mutations, in gastric lymphoma. |
| Chen YW, Hu XT, Liang AC, Au WY, So CC, Wong ML, Shen L, Tao Q, Chu KM, Kwong YL, Liang RH, Srivastava G. |
| Blood. 2006 Oct 1;108(7):2373-83. Epub 2006 Jun 13. |
| PMID 16772602 |
| Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. |
| Turnbull C, Rapley EA, Seal S, Pernet D, Renwick A, Hughes D, Ricketts M, Linger R, Nsengimana J, Deloukas P, Huddart RA, Bishop DT, Easton DF, Stratton MR, Rahman N; UK Testicular Cancer Collaboration. |
| Nat Genet. 2010 Jul;42(7):604-7. doi: 10.1038/ng.607. Epub 2010 Jun 13. |
| PMID 20543847 |
| Dmrt1 genes at the crossroads: a widespread and central class of sexual development factors in fish. |
| Herpin A, Schartl M. |
| FEBS J. 2011 Apr;278(7):1010-9. doi: 10.1111/j.1742-4658.2011.08030.x. Epub 2011 Feb 25. (REVIEW) |
| PMID 21281449 |
| Contributor(s) |
| Written | 07-2009 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France | ||
| Updated | 12-2012 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(3;9)(q27;p24) DMRT1/BCL6. Atlas Genet Cytogenet Oncol Haematol. July 2009 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0309q27p24ID1488.html |
| Huret JL . t(3;9)(q27;p24) DMRT1/BCL6. Atlas Genet Cytogenet Oncol Haematol. December 2012 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0309q27p24ID1488.html |
This paper is referenced by INIST as such : |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:03 CET 2013 |
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