genetic translocation

Summary

Summary: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.

Top Publications

  1. Albano F, Anelli L, Zagaria A, Coccaro N, D Addabbo P, Liso V, et al. Genomic segmental duplications on the basis of the t(9;22) rearrangement in chronic myeloid leukemia. Oncogene. 2010;29:2509-16 pubmed publisher
    ..On the basis of our results, we propose a three-step model for t(9;22) formation consisting of alignment of chromosomes 9 and 22 mediated by SD_9/22, spontaneous chromosome breakages and misjoining of DNA broken ends...
  2. Harewood L, Keeling J, Fantes J, Opitz J, Fitzpatrick D. 'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3). Clin Dysmorphol. 2010;19:5-13 pubmed publisher
    ..We cannot assign a specific genetic mechanism in the translocation case but developmental disregulation of gene expression at one, or both, breakpoints may provide an explanation for the phenotype...
  3. Pechloff K, Holch J, Ferch U, Schweneker M, Brunner K, Kremer M, et al. The fusion kinase ITK-SYK mimics a T cell receptor signal and drives oncogenesis in conditional mouse models of peripheral T cell lymphoma. J Exp Med. 2010;207:1031-44 pubmed publisher
    ..Our work demonstrates that constitutively enforced antigen receptor signaling can, in principle, act as a powerful oncogenic driver. Moreover, we establish a robust clinically relevant and genetically tractable model of human PTCL...
  4. Robbiani D, Bunting S, Feldhahn N, Bothmer A, Camps J, Deroubaix S, et al. AID produces DNA double-strand breaks in non-Ig genes and mature B cell lymphomas with reciprocal chromosome translocations. Mol Cell. 2009;36:631-41 pubmed publisher
    ..We conclude that AID produces DSBs throughout the genome, which can lead to lymphoma-associated chromosome translocations in mature B cells...
  5. Manthey G, Naik N, Bailis A. Msh2 blocks an alternative mechanism for non-homologous tail removal during single-strand annealing in Saccharomyces cerevisiae. PLoS ONE. 2009;4:e7488 pubmed publisher
    ..These results suggest that Msh2 plays multiple roles in the formation of chromosomal translocations following acute levels of DNA damage...
  6. Meyer C, Kowarz E, Hofmann J, Renneville A, Zuna J, Trka J, et al. New insights to the MLL recombinome of acute leukemias. Leukemia. 2009;23:1490-9 pubmed publisher
    ..Moreover, we describe for the first time the genetic network of reciprocal MLL gene fusions deriving from complex rearrangements...
  7. Burrow A, Williams L, Pierce L, Wang Y. Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites. BMC Genomics. 2009;10:59 pubmed publisher
    ..However, there has been no comprehensive and quantitative examination of the location of fragile sites in relation to all chromosomal aberrations...
  8. Liu H, Cheng E, Hsieh J. MLL fusions: pathways to leukemia. Cancer Biol Ther. 2009;8:1204-11 pubmed
    ..Here, we summarize the critical biological and pathological activities of MLL and MLL fusions, and discuss available models and potential therapeutic targets of MLL associated leukemias...
  9. Ortiz de Mendíbil I, Vizmanos J, Novo F. Signatures of selection in fusion transcripts resulting from chromosomal translocations in human cancer. PLoS ONE. 2009;4:e4805 pubmed publisher
    ..However, it has also been suggested that functional constraints might contribute to delimit the position of translocation breakpoints within the genes involved, but a quantitative analysis of such contribution has been lacking...

More Information

Publications62

  1. Romeo S, Hogendoorn P, Dei Tos A. Benign cartilaginous tumors of bone: from morphology to somatic and germ-line genetics. Adv Anat Pathol. 2009;16:307-15 pubmed publisher
    ..The main genetic findings are hereby reviewed...
  2. Bennour A, Sennana H, Laatiri M, Elloumi M, Khelif A, Saad A. Molecular cytogenetic characterization of variant Philadelphia translocations in chronic myeloid leukemia: genesis and deletion of derivative chromosome 9. Cancer Genet Cytogenet. 2009;194:30-7 pubmed publisher
    ..Proper assessment of the prognostic significance of variant translocations requires better categorization of these translocations based on their mechanisms of genesis and 9q34 deletion status...
  3. Callén E, Bunting S, Huang C, Difilippantonio M, Wong N, Khor B, et al. Chimeric IgH-TCRalpha/delta translocations in T lymphocytes mediated by RAG. Cell Cycle. 2009;8:2408-12 pubmed
    ..We suggest a new model for how oncogenic translocations can arise from two non-concerted physiological DSBs. ..
  4. Wang J, Gostissa M, Yan C, Goff P, Hickernell T, Hansen E, et al. Mechanisms promoting translocations in editing and switching peripheral B cells. Nature. 2009;460:231-6 pubmed publisher
    ..Our studies show peripheral B cells that attempt secondary V(D)J recombination, and determine a role for mechanistic factors in promoting recurrent translocations in tumours...
  5. Edwards P. Fusion genes and chromosome translocations in the common epithelial cancers. J Pathol. 2010;220:244-54 pubmed publisher
  6. Shan L, Ambroisine L, Clark J, Yáñez Muñoz R, Fisher G, Kudahetti S, et al. The identification of chromosomal translocation, t(4;6)(q22;q15), in prostate cancer. Prostate Cancer Prostatic Dis. 2010;13:117-25 pubmed publisher
    ..0628). The potential role of this translocation in the development of human prostate cancer is discussed...
  7. Mackie Ogilvie C, Watson S, Braude P, Pickering S, Scriven P. Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring. Fertil Steril. 2010;94:1529.e11-4 pubmed publisher
    ..To demonstrate the feasibility of establishing a successful pregnancy for a carrier of a balanced Y;autosome translocation...
  8. Karaman B, Rosti R, Yilmaz K, Ozturk H, Kayserili H, Basaran S. A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly. Turk J Pediatr. 2009;51:613-6 pubmed
    ..This case is worth mentioning in the sense that it bears two de novo rearrangements with five breakpoints. The correlation between the possible disrupted genes within the given breakpoints and the phenotype of the case will be discussed...
  9. Kim M, Yoon H, Cho S, Lee H, Suh J, Lee J, et al. ider(17)(q10)t(15;17) associated with relapse and poor prognosis in a pediatric patient with acute promyelocytic leukemia. Cancer Genet Cytogenet. 2010;201:116-21 pubmed publisher
    ..However, further well-designed case-control studies are necessary to determine the treatment response and prognosis in pediatric or adult APL patients with ider(17)(q10)t(15;17)...
  10. Roberts P, Stinchcombe T, Der C, Socinski M. Personalized medicine in non-small-cell lung cancer: is KRAS a useful marker in selecting patients for epidermal growth factor receptor-targeted therapy?. J Clin Oncol. 2010;28:4769-77 pubmed publisher
  11. Hussain A, Faryal R, Nore B, Mohamed A, Smith C. Phosphatidylinositol-3-kinase-dependent phosphorylation of SLP-76 by the lymphoma-associated ITK-SYK fusion-protein. Biochem Biophys Res Commun. 2009;390:892-6 pubmed publisher
  12. Tzschach A, Bisgaard A, Kirchhoff M, Graul Neumann L, Neitzel H, Page S, et al. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Eur J Hum Genet. 2010;18:291-5 pubmed publisher
    ..This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients...
  13. May P, Foot N, Dunn R, Geoghegan H, Neat M. Detection of cryptic and variant IGH-MYC rearrangements in high-grade non-Hodgkin's lymphoma by fluorescence in situ hybridization: implications for cytogenetic testing. Cancer Genet Cytogenet. 2010;198:71-5 pubmed publisher
  14. Sorour A, Nafea D. Dual color FISH on CBF primary acute myeloid leukemia. Egypt J Immunol. 2008;15:25-31 pubmed
    ..In conclusion, FISH can be used as a complementary technique to identify t(8;21) and inv16/t(16;16) in de novo AML as these abnormalities are difficult to diagnose in most cases by conventional cytogenetics alone...
  15. Martínez Valenzuela M, Rivera H, Mundo Ayala J, González Mercado M, Dávalos Rodríguez I. A teenager with a t(X;17)(q22;q25) and ovarian failure. Genet Couns. 2010;21:269-75 pubmed
    ..We describe here a teenager with ovarian failure likely due to a balanced t(X;17)(q22;q25)...
  16. Klapproth K, Wirth T. Advances in the understanding of MYC-induced lymphomagenesis. Br J Haematol. 2010;149:484-97 pubmed publisher
    ..This review summarizes recent advances in the research on MYC-induced lymphomagenesis, focusing on the regulation of microRNAs and apoptosis, and possible contributions of EBV for lymphoma development...
  17. Masir N, Campbell L, Jones M, Mason D. Pseudonegative BCL2 protein expression in a t(14;18) translocation positive lymphoma cell line: a need for an alternative BCL2 antibody. Pathology. 2010;42:212-6 pubmed publisher
    ..This study aims to explore the mechanism accounting for the lack of BCL2 protein expression when the t(14;18) translocation is present...
  18. Ross F, Chiecchio L, Dagrada G, Protheroe R, Stockley D, Harrison C, et al. The t(14;20) is a poor prognostic factor in myeloma but is associated with long-term stable disease in monoclonal gammopathies of undetermined significance. Haematologica. 2010;95:1221-5 pubmed publisher
    ..None of the associated genetic abnormalities helped to predict for progression from MGUS or smoldering myeloma...
  19. Rossnerova A, Balascak I, Rossner P, Sram R. Frequency of chromosomal aberrations in Prague mothers and their newborns. Mutat Res. 2010;699:29-34 pubmed publisher
    ..The mother's age affected the level of aberrations in newborns: the group of children born to older mothers (31-40 years) had significantly increased F(G)/100 levels...
  20. Chen C, Chern S, Wu P, Tsai F, Lee C, Town D, et al. Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis. Taiwan J Obstet Gynecol. 2010;49:62-8 pubmed publisher
    ..To present unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis...
  21. Eide M, Liestøl K, Lingjaerde O, Hystad M, Kresse S, Meza Zepeda L, et al. Genomic alterations reveal potential for higher grade transformation in follicular lymphoma and confirm parallel evolution of tumor cell clones. Blood. 2010;116:1489-97 pubmed publisher
    ..The pattern of SHMs confirmed parallel development of tumor cell clones in 14 cases. Our findings support the hypothesis of common progenitor cells in FL...
  22. Oh S, Park T, Choi J, Lee S, Cho S, Kim S, et al. Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript. Cancer Genet Cytogenet. 2010;200:180-3 pubmed publisher
    ..Although more clinical studies are necessary, we believe that a possible association between ALL and a specific type of FUS-ERG fusion transcript might be considered, especially in childhood cases with t(16;21)...
  23. Yusenko M, Nagy A, Kovacs G. Molecular analysis of germline t(3;6) and t(3;12) associated with conventional renal cell carcinomas indicates their rate-limiting role and supports the three-hit model of carcinogenesis. Cancer Genet Cytogenet. 2010;201:15-23 pubmed publisher
  24. Avet Loiseau H, Leleu X, Roussel M, Moreau P, Guerin Charbonnel C, Caillot D, et al. Bortezomib plus dexamethasone induction improves outcome of patients with t(4;14) myeloma but not outcome of patients with del(17p). J Clin Oncol. 2010;28:4630-4 pubmed publisher
    ..Patients presenting with either t(4;14) or del(17p) are known to have a short event-free survival (EFS) and overall survival (OS). Some preliminary data suggest that bortezomib is able to overcome these prognostic parameters...
  25. Scriven P, Ogilvie C. FISH for pre-implantation genetic diagnosis. Methods Mol Biol. 2010;659:269-82 pubmed publisher
  26. Mohan M, Lin C, Guest E, Shilatifard A. Licensed to elongate: a molecular mechanism for MLL-based leukaemogenesis. Nat Rev Cancer. 2010;10:721-8 pubmed publisher
    ..These studies provide evidence for the importance of the regulation of Pol II elongation in disease pathogenesis and suggest that MLL chimaeras function by licensing Pol II transcription elongation without the appropriate checkpoints...
  27. Marschalek R. Mixed lineage leukemia: roles in human malignancies and potential therapy. FEBS J. 2010;277:1822-31 pubmed publisher
  28. Tirado C, Chen W, Huang L, Laborde C, Hiemenz M, Valdez F, et al. Novel JAK2 rearrangement resulting from a t(9;22)(p24;q11.2) in B-acute lymphoblastic leukemia. Leuk Res. 2010;34:1674-6 pubmed publisher
    ..This case brings the total number of JAK2 rearranged lymphoblastic leukemia cases in the literature to seven. The molecular genetic and clinicopathologic features of these cases were reviewed...
  29. Tirado C, Valdez F, Klesse L, Karandikar N, Uddin N, Arbini A, et al. Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3'CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review. Cancer Genet Cytogenet. 2010;200:54-9 pubmed publisher
    ..2;p13.1) as an additional abnormality...
  30. Nojima T. [Classification of soft tissue tumors and current approach to pathologic diagnosis]. Rinsho Byori. 2010;58:352-7 pubmed
    ..However, many studies have indicated a growing number of fusion gene variations in each tumor type. This article reviews and discusses problems in the diagnostic pathology of soft tissue tumors with newly useful pathological methods...
  31. Levy M, Copie Bergman C, Molinier Frenkel V, Riou A, Haioun C, Gaulard P, et al. Treatment of t(11;18)-positive gastric mucosa-associated lymphoid tissue lymphoma with rituximab and chlorambucil: clinical, histological, and molecular follow-up. Leuk Lymphoma. 2010;51:284-90 pubmed publisher
    ..Molecular disease persists despite histological remission. t(11;18) is more sensitive than B cell clonality for the monitoring of residual molecular disease...
  32. Luo S, Fang R, Hsieh H, Chi P, Lin C, Hsiao L, et al. Involvement of MAPKs and NF-kappaB in tumor necrosis factor alpha-induced vascular cell adhesion molecule 1 expression in human rheumatoid arthritis synovial fibroblasts. Arthritis Rheum. 2010;62:105-16 pubmed publisher
    ..To investigate the roles of MAPKs and NF-kappaB in tumor necrosis factor alpha (TNFalpha)-induced expression of vascular cell adhesion molecule 1 (VCAM-1) in human rheumatoid arthritis synovial fibroblasts (RASFs)...
  33. Freigassner M, Pichler H, Glieder A. Tuning microbial hosts for membrane protein production. Microb Cell Fact. 2009;8:69 pubmed publisher
    ..Omics technologies provide new concepts to engineer microbial hosts for membrane protein production...
  34. Pal S, Ma S, Norhasimah M, Suhaida M, Siti Mariam I, Ankathil R, et al. Chromosomal abnormalities and reproductive outcome in Malaysian couples with miscarriages. Singapore Med J. 2009;50:1008-12 pubmed
    ..This study was done to determine the prevalence of chromosomal abnormalities and the subsequent reproductive outcome in couples who had two or more miscarriages...
  35. Im M, Lee J, Lee D, Hong Y, Hong S, Kang H, et al. [Near-tetraploidy acute myeloid leukemia with RUNX1-RUNX1T1 rearrangement due to cryptic t(8;21)]. Korean J Lab Med. 2009;29:510-4 pubmed publisher
    ..Although the prognosis of tetraploidy or near- tetraploidy with t(8;21) is known to be poor, this patient shows a relatively good clinical course compared to other reported cases...
  36. Wang H, Li S, Woodford R, Mills S, Cousar J. BCL2 chromosomal translocation is not a general feature of the interdigitating dendritic cell sarcoma. Diagn Mol Pathol. 2010;19:169-71 pubmed publisher
  37. Leclercq S, Auger J, Dupont C, Le Tessier D, Lebbar A, Baverel F, et al. Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management. Eur J Med Genet. 2010;53:127-32 pubmed publisher
  38. De Braekeleer E, Douet Guilbert N, Morel F, LE Bris M, Basinko A, Berthou C, et al. Philadelphia chromosome-positive acute lymphoblastic leukemia: a cytogenetic study of 33 patients diagnosed between 1981 and 2008. Anticancer Res. 2010;30:569-73 pubmed
    ..Main of study: To analyze the distribution of Ph chromosome-positive ALL patients...
  39. Dietz K, Miller P, Hollenbach A. Phosphorylation of serine 205 by the protein kinase CK2 persists on Pax3-FOXO1, but not Pax3, throughout early myogenic differentiation. Biochemistry. 2009;48:11786-95 pubmed publisher
  40. Sumegi J, Streblow R, Frayer R, Dal Cin P, Rosenberg A, Meloni Ehrig A, et al. Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. Genes Chromosomes Cancer. 2010;49:224-36 pubmed publisher
    ..The latter could potentially be used as aids in diagnostically challenging cases...
  41. Lopez J, Claessen S, Macville M, Albrechts J, Skogseid B, Speel E. Spectral karyotypic and comparative genomic analysis of the endocrine pancreatic tumor cell line BON-1. Neuroendocrinology. 2010;91:131-41 pubmed publisher
    ..In conclusion, we provide here a comprehensive cytogenetic profile of BON-1. This cell line harbors both numerical and structural genomic alterations indicative for malignant EPTs...
  42. Pannunzio N, Manthey G, Bailis A. RAD59 and RAD1 cooperate in translocation formation by single-strand annealing in Saccharomyces cerevisiae. Curr Genet. 2010;56:87-100 pubmed publisher
    ..These data suggest that at least one role of Rad59 in translocation formation by SSA is supporting the machinery required for cleavage of non-homologous tails...
  43. Maass P, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, et al. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum Mol Genet. 2010;19:848-60 pubmed publisher
    ..These results are the first to identify a cis-directed PTHLH downregulation as primary cause of human chondrodysplasia...
  44. Pingali S, Mathiason M, Lovrich S, Go R. Emergence of chronic myelogenous leukemia from a background of myeloproliferative disorder: JAK2V617F as a potential risk factor for BCR-ABL translocation. Clin Lymphoma Myeloma. 2009;9:E25-9 pubmed publisher
    ..Because of therapeutic implications, clinicians should be aware that the conditions co-occur more frequently than once thought...
  45. Rutsch S, Neppalli V, Shin D, DuBois W, Morse H, Goldschmidt H, et al. IL-6 and MYC collaborate in plasma cell tumor formation in mice. Blood. 2010;115:1746-54 pubmed publisher
    ..The newly developed mouse strains may provide a good preclinical research tool for the design and testing of new approaches to target IL-6 in treatment and prevention of human PCNs...
  46. Lange K, Gadzicki D, Schlegelberger B, Göhring G. Recurrent involvement of heterochromatic regions in multiple myeloma-a multicolor FISH study. Leuk Res. 2010;34:1002-6 pubmed publisher
    ..These chromosome aberrations were generated by breaks in heterochromatic regions indicating an increased breakage of these regions, which may predispose to the generation of chromosome aberrations in multiple myeloma...
  47. Gronbach K, Eberle U, Müller M, Olschläger T, Dobrindt U, Leithäuser F, et al. Safety of probiotic Escherichia coli strain Nissle 1917 depends on intestinal microbiota and adaptive immunity of the host. Infect Immun. 2010;78:3036-46 pubmed publisher
    ..coli strain Nissle 1917 may occur and have potentially severe adverse effects. Future work should define the possibly related molecular factors that promote probiotic functions, fitness, and facultative pathogenicity...
  48. Grimwade D, Hills R, Moorman A, Walker H, Chatters S, Goldstone A, et al. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood. 2010;116:354-65 pubmed publisher
    ..This study is registered at http://www.isrctn.org as ISRCTN55678797 and ISRCTN17161961...
  49. Kang S, Shaw C, Ou Z, Eng P, Cooper M, Pursley A, et al. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A. 2010;152A:1111-26 pubmed publisher
    ..We hypothesize that the increased use of aCGH in the clinic will demonstrate that IT occurs more frequently than previously considered but can identify genomic rearrangements with unclear clinical significance...
  50. Knösel T, Heretsch S, Altendorf Hofmann A, Richter P, Katenkamp K, Katenkamp D, et al. TLE1 is a robust diagnostic biomarker for synovial sarcomas and correlates with t(X;18): analysis of 319 cases. Eur J Cancer. 2010;46:1170-6 pubmed publisher
  51. Kovaleva O, Bezdenezhnykh N, Glazko T, Vorontsova A, Kudryavets Y. Karyotype alterations in human lung adenocarcinoma cells after long-term action of interferon-alpha. Exp Oncol. 2010;32:19-22 pubmed
    ..To estimate the effect of long-term IFN treatment of human non-small-cell lung cancer cell line A-549 on their karyotype characteristics and on the clonal structure of cell population...
  52. Dittmann K, Mayer C, Rodemann H. Nuclear EGFR as novel therapeutic target: insights into nuclear translocation and function. Strahlenther Onkol. 2010;186:1-6 pubmed publisher
    ..However, both strategies can inhibit DNA repair following irradiation. ..
  53. Okuya M, Kurosawa H, Kikuchi J, Furukawa Y, Matsui H, Aki D, et al. Up-regulation of survivin by the E2A-HLF chimera is indispensable for the survival of t(17;19)-positive leukemia cells. J Biol Chem. 2010;285:1850-60 pubmed publisher
    ..These data indicated that reversal of AIF translocation by Survivin, which is induced by E2A-HLF throughout the cell cycle, is one of the key mechanisms in the protection of t(17;19)+ leukemia cells from apoptosis...