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- W2607976849 abstract "Summary Myeloproliferative neoplasms ( MPNs ) are generally acquired as a result of a somatic stem cell mutation leading to clonal expansion of myeloid precursors. In addition to sporadic cases, familial MPN occurs when one or several MPN affect different relatives of the same family. MPN driver mutations ( JAK 2 , CALR , MPL ) are somatically acquired also in familial cases, so a genetic predisposition to acquire one of the MPN driver mutations would be inherited, even though the causative germline mutations underlying familial MPN remain largely unknown. Recently some germline variants [ ATG 2B and GSKIP duplication, RBBP 6 mutations, SH 2B3 ( LNK ) mutations], which can cause familial MPN , have been reported but these mutations are rare and do not explain most familial cases. Patients with familial MPN show the same clinical features and suffer the same complications as those with sporadic disease. This review aims to offer up‐to‐date information regarding the genetics of familial MPN ." @default.
- W2607976849 created "2017-05-05" @default.
- W2607976849 creator A5050011235 @default.
- W2607976849 creator A5072484806 @default.
- W2607976849 date "2017-04-25" @default.
- W2607976849 modified "2023-10-05" @default.
- W2607976849 title "Advances in understanding the pathogenesis of familial myeloproliferative neoplasms" @default.
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- W2607976849 doi "https://doi.org/10.1111/bjh.14713" @default.
- W2607976849 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28444727" @default.
- W2607976849 hasPublicationYear "2017" @default.
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