Article
Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms.
Leukemia - 1 Mar 2023
Braunstein Evan M, Imada Eddie, Pasca Sergiu, Wang Shiyu, Chen Hang, Alba Camille, Hupalo Dan N, Wilkerson Matthew, Dalgard Clifton L, Ghannam Jack, Liu Yujia, Marchionni Luigi, Moliterno Alison, Hourigan Christopher S, Gondek Lukasz P
Abstract excerpt
Genetic predisposition (familial risk) in the myeloproliferative neoplasms (MPNs) is more common than the risk observed in most other cancers, including breast, prostate, and colon. Up to 10% of MPNs are considered to be familial. Recent genome-wide association studies have identified genomic loci associated with an MPN diagnosis. However, the identification of variants with functional contributions to the...
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