CHEK2 Germline Variants in Early‐Onset and Familial Myeloproliferative Neoplasms

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, reinfo...

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Published inAmerican journal of hematology
Main Authors Borsani, Oscar, Molteni, Elisabetta, Pietra, Daniela, Gallì, Anna, Ferretti, Virginia Valeria, Catricalà, Silvia, Rizzo, Ettore, Malcovati, Luca, Rumi, Elisa
Format Journal Article
LanguageEnglish
Published United States 09.09.2025
Subjects
predisposition
germline
CHEK2
myeloproliferative
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ISSN0361-8609
1096-8652
1096-8652
DOI10.1002/ajh.70072

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Summary: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.
Bibliography:content type line 23
SourceType-Scholarly Journals-1
ObjectType-Correspondence-1
ISSN:0361-8609
1096-8652
1096-8652
DOI:10.1002/ajh.70072