Ontology highlight
ABSTRACT:
SUBMITTER: Brown DW
PROVIDER: S-EPMC9458655 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
Brown Derek W DW Zhou Weiyin W Wang Youjin Y Jones Kristine K Luo Wen W Dagnall Casey C Teshome Kedest K Klein Alyssa A Zhang Tongwu T Lin Shu-Hong SH Lee Olivia W OW Khan Sairah S Vo Jacqueline B JB Hutchinson Amy A Liu Jia J Wang Jiahui J Zhu Bin B Hicks Belynda B Martin Andrew St AS Spellman Stephen R SR Wang Tao T Deeg H Joachim HJ Gupta Vikas V Lee Stephanie J SJ Freedman Neal D ND Yeager Meredith M Chanock Stephen J SJ Savage Sharon A SA Saber Wael W Gadalla Shahinaz M SM Machiela Mitchell J MJ
Nature communications 20220908 1
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 susceptibility loci and recurrently somatically mutated MPN genes (e.g., JAK2). We replicate ...[more]