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Article Abstract
Of 313 patients with early-onset or familial MPN, 7 (2.2%) patients had pathogenic/likely pathogenic (P/LP) germline heterozygous loss of function mutations in CHEK2. The presence of CHEK2 variants was associated with a familial history of malignancies and a higher risk of leukemic evolution, reinforcing the hypothesis of CHEK2 variants as tumor predisposing risk allele.
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