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Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia

22 Oct 2015

Abstract excerpt

Familial clustering of myelodysplastic syndromes (MDSs) and acute myeloid leukemia (AML) can be caused by inherited factors. We screened 59 individuals from 17 families with 2 or more biological relatives with MDS/AML for variants in 12 genes with established roles in predisposition to MDS/AML, and identified a pathogenic germ line variant in 5 families (29%). Extending the screen with a panel of 264 genes that...

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PMID: 26492932
DOI: 10.1182/blood-2015-04-641100

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