Mutated in tumors

Articles

• BAX
  22 April 2008

  Bcl-2–associated X protein

• MSH6
  29 September 2003

  mismatch repair gene
  Pathology
  hereditary nonpolyposis colorectal cancer (HNPCC )
  Turcot syndrome (#16000562#)
  neurofibromatosis type I (#16283678#)
  susceptibility to endometrial carcinomas
  medulloblastoma (#17259933#)
  leukemias (#9510473#) acute myeloid leukemia (#17259933#)
  References
  Scott RH, Mansour S, Pritchard-Jones K, Kumar D, MacSweeney F, Rahman N. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat (...)

• 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 (...)

• CTNNB1
  11 July 2003

  CTNNB1, cadherin-associated protein, beta-catenin PO WP
  Definition: Protein encoded by CTNNB1 gene, coordinates cell–cell adhesion and gene transcription.
  Function
  Part of Wnt signalling pathway, highly conserved pathway with critical role in embryologic development (Dev Cell 2009;17:9), carcinogenesis and epithelial-to-mesenchymal transition.
  Upon Wnt activation, β-catenin is translocated from membrane (where it interacts with E-cadherin) to cytoplasm and nucleus, where it (...)

• 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 (...)

• GNAS
  29 September 2003

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

• MLH1
  29 September 2003

  mismatch repair gene
  MLH is homologous to the E. coli MutL gene and is involved in DNA mismatch repair. Mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (HNPCC2) (MIM.609310).
  Pathology
  Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by inherited germ line mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1.
  MLH1 loss of expression (...)

• JAK2
  8 November 2005

  Janus activated kinase 2

• SMARCB1
  24 November 2003

  INI1, SNF5, INI1/SNF5

• 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 (...)

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