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JAK2
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Interpretation 2324
Tier 3
JAK2
Variants
JAK2 codon(s) 683 missense
Primary Sites
Thyroid
Tumor Types
Papillary Carcinoma
Interpretation

JAK2 is a non-receptor tyrosine kinase that mediates signaling via the JAK-STAT pathway and the somatic, activating mutation V617F in the pseudokinase domain of JAK2 has been reported in over 90% of patients with polycythemia vera, 40-70% of essential thrombocytemia and 40-60% of primary myelofibrosis. JAK2 mutations have not been described in papillary thyroid carcinomas. Moreover, this variant has high prevalence in the East Asian population, and thus is predicted be a germline variant. Clinical correlation with other laboratory findings is recommended.

Citations
  1. Vainchenker W, et al. JAK/STAT signaling in hematological malignancies. Oncogene 2013;32(21):2601-13
  2. Scott LM The JAK2 exon 12 mutations: a comprehensive review. Am J Hematol 2011;86(8):668-76
  3. ExAC Browser. http://exac.broadinstitute.org/variant/9-5073799-C-T
Last updated: 2019-01-22 19:23:59 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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