Mutated in tumors

Articles

• KRAS
  14 April 2004

  Ki-ras, KRAS2

• DDR2
  20 December 2012

  WKP
  Definition: Discoidin domain receptor family, member 2, also known as DDR2 or CD167b (cluster of differentiation 167b), is a human gene coding for a receptor tyrosine kinases (RTK).
  This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain.
  Alternative splicing in the 5’ UTR results in multiple transcript variants encoding the same protein.
  Pathology
  Mutations in the DDR2 kinase gene in pulmonary (...)

• BAP1
  15 March 2012

  BRCA1-associated protein-1 (ubiquitin carboxy-terminal hydrolase) hucep-6, KIAA0272, UCHL2
  Images
  CDKN2A FISH and BAP1 IHC in malignant mesothelioma
  https://twitter.com/PathologyTweet/status/813386502914838528
  Peritoneal malignant mesothelioma with loss of BAP-1
  https://twitter.com/sam_albadri/status/862788854708883457
  Pathology
  Germline mutations in BAP1
  in melanocytic tumors
  Germline mutations in BAP1 cause a familial tumor syndrome characterized by high penetrance for (...)

• 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 (...)

• GNAs
  29 April 2016

  Examples 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 (...)

• 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 (...)

• MSR1
  6 October 2003

  macrophage scavenger receptor 1

• 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 (...)

• KIT
  12 December 2003

  c-kit; CD117
  Definition: The proto-oncogene c-kit / CC117 is a receptor tyrosine kinase recognized to initiate essential signal transduction pathways that transmit biological signals for cellular proliferation, differentiation, and metastasis. Aberrant expression or mutation of c-kit has been shown to be involved in the pathogenesis of many cancers. See also CD117 IHCDB
  Expression in cells
  c-KIT positive spermatogonia
  Expression in tumors (Exemples)
  chromophobe renal cell (...)

• FLT3
  29 October 2003

  FMS-like tyrosine kinase 3

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