A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations.

@article{Janiszewska2012ARO,
  title={A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations.},
  author={Hanna Janiszewska and Aneta Bąk and Maria Pilarska and Marta Heise and Anna Junkiert-Czarnecka and Małgorzata Kuliszkiewicz-Janus and Małgorzata Całbecka and Bożena Jaźwiec and Dariusz Wołowiec and Kazimierz Kuliczkowski and Olga Haus},
  journal={Haematologica},
  year={2012},
  volume={97 3},
  pages={366-70}
}
Germline mutations of the CHEK2 gene have been reported in some myeloid and lymphoid malignancies, but their impact on development of essential thrombocythemia has not been studied. In 16 out of 106 (15.1%) consecutive patients, newly diagnosed with essential thrombocythemia, we found one of four analyzed CHEK2 mutations: I157T, 1100delC, IVS2+1G>A or del5395. They were associated with the increased risk of disease (OR=3.8; P=0.002). The median age at ET diagnosis among CHEK2+/JAK2V617F… CONTINUE READING

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