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Clinical relevance of murine double minute 2 single nucleotide polymorphisms 309 in familial myeloproliferative neoplasm
Author(s) -
Rumi Elisa,
Casetti Ilaria,
Pietra Daniela,
Elena Chiara,
Ambaglio Ilaria,
Pascutto Cristiana,
Passamonti Francesco,
Cazzola Mario
Publication year - 2012
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.22194
Subject(s) - single nucleotide polymorphism , snp , myelofibrosis , biology , myeloproliferative neoplasm , allele , essential thrombocythemia , genetics , myeloid leukemia , population , germline mutation , cancer research , mutation , polycythemia vera , genotype , immunology , medicine , bone marrow , gene , environmental health
We analyzed MDM2 SNP 309 in a large cohort of patients with familial MPN and did not find an effect of the polymorphism on disease susceptibility, age at disease onset, disease progression, and association with JAK2 (V617F) mutation. Germline genetic variants other than MDM2 polymorphisms might be involved in the genetic predisposition to familial MPN