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Article

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

Haematologica - 1 Mar 2012

Janiszewska Hanna, Bak Aneta, Pilarska Maria, Heise Marta, Junkiert-Czarnecka Anna, Kuliszkiewicz-Janus Małgorzata, Całbecka Małgorzata, Jaźwiec Bozena, Wołowiec Dariusz, Kuliczkowski Kazimierz, Haus Olga

Abstract excerpt

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...

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Identifiers

PMID: 22058216
DOI: 10.3324/haematol.2011.049494
PMCID: PMC3291590

Genes

CHEK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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