Mutated in tumors

Articles

• JAK2
  8 November 2005

  Janus activated kinase 2

• PALB2
  23 February 2007

  Definition: PALB2 was identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies.
  PALB2 co-localizes with BRCA2 (MIM.600185) in nuclear foci, promotes its localization and stability in nuclear structures, and enables its recombinational repair and checkpoint functions. PALB2 is a nuclear binding partner of BRCA2.
  Pathology
  Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and (...)

• CDH1
  20 December 2007

  E-cadherin, cadherin-1, uvomorulin, epithelial cadherin WP HGNC PO
  Definition: Tumor suppressor gene CDH1 is at 16q22.1 Calcium-dependent transmembrane epithelial protein that promotes intercellular adhesion.
  Cadherin-1 (cadherin-E) is a specific calcium ion-dependent cell adhesion molecule. E-cadherin is simultaneously a major cell-adhesion molecule, a tumour suppressor protein, a determinant of cell polarity and a partner to the potent catenin signalling molecules.
  Its loss is (...)

• BAX
  22 April 2008

  Bcl-2–associated X protein

• EIF1AX
  13 March 2016

  Pathology
  mutations in thyroid carcinomas
  The EIF1AX gene mutations have been recently found in papillary thyroid carcinoma (PTC) and anaplastic thyroid carcinoma (ATC).
  EIF1AX mutations occur not only in thyroid carcinomas, but also in benign nodules.
  The most common mutation hotspot is the A113_splice, followed by a cluster of mutations in exon 2.
  When found in thyroid FNA samples, EIF1AX mutations confer 20% risk of cancer; the risk is likely to be higher in nodules carrying a (...)

• SMARCB1
  24 November 2003

  INI1, SNF5, INI1/SNF5

• GNAQ
  29 April 2016

  WP
  Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.
  Pathology
  mutated in melanocytic tumors uveal and conjunctival melanoma.
  Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. (#26778290#)
  Open references
  Genetic profile of GNAQ-mutated blue melanocytic neoplasms (...)

• GNA11
  29 April 2016

  GNA11
  Guanine nucleotide-binding protein subunit alpha-11 is a protein that in humans is encoded by the GNA11 gene. Together with GNAQ (its paralogue), it functions as a Gq alpha subunit.
  Pathology
  GNA11 Mutation in Cutaneous Origin Melanoma (#26825879#)
  Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. (#26778290#)
  Open references
  GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case (...)

• GNAS
  29 September 2003

  GNAS1, NESP55, NESP-55, neuroendocrine secretory protein-55

• MSR1
  6 October 2003

  macrophage scavenger receptor 1

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