Germline and somatic JAK2 mutations and susceptibility to chronic myeloproliferative neoplasms

@inproceedings{Goldin2009GermlineAS,
  title={Germline and somatic JAK2 mutations and susceptibility to chronic myeloproliferative neoplasms},
  author={Lynn R Goldin and Magnus Bj{\"o}rkholm and Sigurdur Yngvi Kristinsson and Jan Samuelsson and Ola Landgren},
  booktitle={Genome Medicine},
  year={2009}
}
Myeloproliferative neoplasms (MPNs) are a group of closely related stem-cell-derived clonal proliferative diseases. Most cases are sporadic but first-degree relatives of MPN patients have a five- to seven-fold increased risk for developing an MPN. The tumors of most patients carry a mutation in the Janus kinase 2 gene (JAK2V617F). Recently, three groups have described a strong association of JAK2 germline polymorphisms with MPN in patients positive for JAK2V617F. The somatic mutation occurs… CONTINUE READING
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