Variants-Mutants

• JAK2 exon 12 mutations
  7 December 2011

  Pathology
  polycythemia vera JAK2(V617F) JAK2 exon 12 mutations. N542-E543del mutation R541-E543delinsK
  No evidence for JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma. (#19704259#)
  References
  No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma. Wu D, Dutra B, Lindeman N, Takahashi H, Takeyama K, Harris NL, Pinkus GS, Longtine J, Shipp M, Kutok JL. Diagn Mol Pathol. 2009 Sep;18(3):144-9. PMID: #19704259# (Free) (...)

• methylenetetrahydrofolate reductase C677T
  5 December 2011

  methylenetetrahydrofolate reductase C677T

• prothrombin G20210A
  5 December 2011

  See also
  prothrombin
  hereditary thrombophilia
  References
  Rapid multiplexed genotyping for hereditary thrombophilia by SELDI-TOF mass spectrometry. Yang S, Xu L, Wu HM. Diagn Mol Pathol. 2010 Mar;19(1):54-61. PMID: #20186013#

• KIT-D816V
  29 November 2011

  KIT(D816V)

• AKT1-pS473
  14 January 2011

  AKT-pS473

• CDKN2A-A148T
  22 July 2010

  Pathology
  The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations. (#16614725#)
  References
  The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations. Spica T, Portela M, Gérard B, Formicone F, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Dupin N, Wolkenstein P, Vitoux D, Lebbe C, Saiag P, Basset-Seguin N, Fargnoli MC, Grandchamp B, Peris K, Soufir N; MELAN-COHORT. J Invest (...)

• RET-V804M
  21 July 2010

  References
  Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A. Gibelin H, Bezieau S, Misso C, Bouin-Pineau MH, Maréchaud R, Kraimps JL. Br J Surg. 2004 Nov;91(11):1458-9. PMID: #15386323#

• JAK2-V617F
  26 April 2010

  During the last 5 years, it was discovered that the JAK2V617F somatic mutation is present in virtually all patients with polycythemia vera and a large proportion of patients with essential thrombocythemia, primary myelofibrosis, and refractory anemia with ring sideroblasts and thrombocytosis.
  As a result, JAK2-V617F was incorporated as a new clonal marker in the 2008 revision of the WHO diagnostic criteria.
  Current methods for JAK2 genotyping include direct sequencing, pyrosequencing, (...)

• BRAF-V600E
  2 February 2010

  BRAF is an oncogene that is commonly mutated in both melanomas and papillary thyroid carcinomas (PTCs).
  Usually, mutations in the codons 600 or 601 lead to constitutive activity in the Ras-mitogen-activated protein kinase pathway.
  Neoplasms associated with BRAF-V600E mutations:
  histiocytic proliferations
  Langerhans cell histiocytosis
  Erdheim-Chester disease
  juvenile xanthogranuloma family neoplasms (#31685033#)
  -* BRAF V600E mutations are not an oncogenic driver of solitary (...)

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