Involved in translocations

Articles

• CREB3L2
  3 June 2004

  BBF2H7

• BCL6
  17 February 2005

  LAZ3, ZNF51 WKP
  Definition: The BCL6 gene is a proto-oncogene, that encodes for a zinc-finger transcriptional repressor acting on a series of target genes implicated in T and B cell maturation, cell cycle control, apoptosis or inflammation.
  Its down regulation is necessary for the post-germinal center B cell maturation, whereas its expression is crucial for the germinal center formation.
  BCL6 is a zinc-finger transcription repressor normally expressed exclusively within GC B cells, (...)

• TFEB
  20 May 2004

  Molecular biology
  TFEB/MALAT1 fusion gene by t(6;11)(p21;q13) in
  TFEB-associated renal cell carcinoma (#15644781#, #12719541#, #12837690#)
  HMB45+ renal epithelial tumor (#11395386#)
  See also
  Oncobase
  References
  Argani P, Lae M, Hutchinson B, Reuter VE, Collins MH, Perentesis J, Tomaszewski JE, Brooks JS, Acs G, Bridge JA, Vargas SO, Davis IJ, Fisher DE, Ladanyi M. Renal carcinomas with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFEB (...)

• MYC
  29 October 2003

  c-MYC

• NOTCH1
  11 June 2003

  Notch1

• FGFR3
  29 June 2004

  Pathology
  constitutional activating mutations in
  several autosomal dominant craniosynostosis syndromes
  Crouzon craniosynostosis with acanthosis nigricans
  Muenke syndrome (coronal craniosynostosis)
  Saethre-Chotzen syndrome
  Beare-Stevenson syndrome
  chondrodysplasias
  hypochondroplasia (MIM.146000)
  achondroplasia (MIM.100800)
  SADDAN dysplasia
  skeletal dysplasia with acanthosis nigricans
  thanatophoric dysplasia
  thanatophoric dysplasia type 1 (MIM.187600)
  thanatophoric (...)

• CRTC1
  8 May 2005

  TORC1, mucoepidermoid carcinoma-translocated 1, CRTC1; MECT1
  Pathology
  MAML2-CRTC1 gene fusion by t(11;19)(q21;p13) in
  mucoepidermoid carcinoma
  benign Warthin tumor
  cutaneous clear cell hidradenoma (#15729701#)
  The CRTC1-MAML2 translocation is identified in a large proportion of mucoepidermoid carcinomas (MEC) of the salivary gland and is an emerging favorable prognosticator.
  CRTC1-MAML2 translocation is highly specific for MEC and imparts a better prognosis. However, it is (...)

• PAX7
  5 July 2004

  Pathology
  FOXO1A-PAX7 / PAX7/FOXO1A fusion transcript in alveolar rhabdomyosarcoma
  IHC
  Immunohistochemical analysis of PAX7 expression may be a useful diagnostic tool in the assessment of skeletal muscle differentiation in human tumors. (#27526298#)
  See also
  PAXs
  Paywall References
  PAX7 Expression in Rhabdomyosarcoma, Related Soft Tissue Tumors, and Small Round Blue Cell Neoplasms. Charville GW, Varma S, Forgó E, Dumont SN, Zambrano E, Trent JC, Lazar AJ, van de Rijn M. Am J Surg (...)

• EVI1
  28 June 2004

  MDS

• JJAZ1
  28 June 2004

  Pathology
  fusion genes between JAZF1 at 7p15 and JJAZ1 at 17q21 by t(7;17)(p15;q21) in endometrial stromal tumors
  Pathology
  Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, Cin PD, Fletcher JA, Sklar J. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6348-53. PMID: #11371647#

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