Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.

doi:10.1038/s41467-022-32986-7

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Article

Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.

Nature communications - 8 Sept 2022

Brown Derek W, Zhou Weiyin, Wang Youjin, Jones Kristine, Luo Wen, Dagnall Casey, Teshome Kedest, Klein Alyssa, Zhang Tongwu, Lin Shu-Hong, Lee Olivia W, Khan Sairah, Vo Jacqueline B, Hutchinson Amy, Liu Jia, Wang Jiahui, Zhu Bin, Hicks Belynda, Martin Andrew St, Spellman Stephen R, Wang Tao, Deeg H Joachim, Gupta Vikas, Lee Stephanie J, Freedman Neal D, Yeager Meredith, Chanock Stephen J, Savage Sharon A, Saber Wael, Gadalla Shahinaz M, Machiela Mitchell J

Abstract excerpt

Myelofibrosis is a rare myeloproliferative neoplasm (MPN) with high risk for progression to acute myeloid leukemia. Our integrated genomic analysis of up to 933 myelofibrosis cases identifies 6 germline susceptibility loci, 4 of which overlap with previously identified MPN loci. Virtual karyotyping identifies high frequencies of mosaic chromosomal alterations (mCAs), with enrichment at myelofibrosis GWAS...

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Identifiers

PMID: 36075929
DOI: 10.1038/s41467-022-32986-7
PMCID: PMC9458655

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