Involved in translocations

Articles

• NR4A3
  24 August 2004

  CSMF, NOR1, NOR-1

• CAMTA1
  1 June 2007

  Definition: CAMTA1 (calmodulin-binding transcription activator 1) gene spans a minimal region of 1p36 loss in gliomas with oligodendrial differentiation but is not subject to somatic mutations. CAMTA1 expression is cell cycle dependent, being higher in the S and M phases. CAMTA1 is a putative 1p36 cancer gene.
  Pathology
  A WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. (#21584898#)
  Epithelioid hemangioendothelioma (...)

• HMGA2
  27 October 2004

  HMGI-C, HMGI-C

• ALK
  19 June 2003

  Locus: 2p23. AGCOH OMIM
  Cytogenetics
  t(2;17)(p23;q23)
  Pathology
  ALK rearrangements - ALK fusion
  Chromosomal rearrangements involving the anaplastic lymphoma kinase gene (ALK) at 2p23 result in fusion with various partner genes leading to aberrant production of oncogenic protein products in multiple tumor types.
  In tumorigenesis, the ALK gene at 2p23 is known to be fused to NPM, TPM3, TPM4, TFG, ATIC, CLTC, MSN, and ALO17.
  ALK-ATIC by inv(2)(p23q35) in IMF (#12939746#) (...)

• 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 (...)

• NTRK3
  3 June 2004

  TrkC; TRKC
  Definition: TrkC is a member of the Trk family of tyrosine kinase receptors and plays an important role in the development and maintenance of neural tissues.
  Pathology
  ETV6-NTRK3 fusion gene by translocation t(12;15)(p13;q25) congenital fibrosarcoma (#9462753#) mesoblastic nephroma (#9811336#, #9823307#) chronic myeloid leukemia secretory breast carcinoma (#15101049#)
  NTRK3 signaling is activated in adenoid cystic carcinoma and requires NT-3 to stimulate invasive (...)

• PPARG
  5 July 2004

  PPAR-gamma
  Pathology
  PAX8-PPARG fusion gene PAX8-PPARG fusion gene in thyroid follicular tumors
  PPARG germ-line mutations in autosomal dominant familial partial lipodystrophy (MIM.604367) in severe insulin resistance and type II diabetes (MIM.125853) overrepresentation of a 1347C-T polymorphism in the PPARG gene in american patients with glioblastoma (MIM.137800)
  somatic mutation of PPARG in colorectal adenocarcinoma
  See also
  PPARs
  References
  Campbell IW. The Clinical (...)

• PCM1
  23 January 2006

  pericentriolar material 1

• MAML2
  8 March 2004

  Mastermind-like Notch coactivator MAML2
  Pathology
  MAML2-MECT1 (MAMl2-CRTC1) gene fusion by t(11;19)(q21;p13) in
  mucoepidermoid carcinoma (#14720503#)
  benign Warthin tumor (#14720503#)
  cutaneous clear cell hidradenoma (#15729701#, #17334997#)
  MAML2-WAMTP1 gene fusion
  MAML2-MLL gene fusion in
  secondary acute myelogenous leukemia (#17551948#)
  myelodysplastic syndrome with inv(11)(q21q23) (#17551948#)
  The MECT1-MAML2 translocation is identified in a large proportion of (...)

• DDIT3
  3 June 2004

  CHOP

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