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

  title={Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.},
  author={Jane E. Churpek and Khateriaa Pyrtel and Krishna-Latha Kanchi and Jin Shao and Daniel C. Koboldt and Christopher A Miller and Dong Shen and Robert S. Fulton and Michelle D. O'Laughlin and Catrina C. Fronick and Iskra Pusic and G L Uy and Evan M. Braunstein and Mark J Levis and Julie A. Ross and Kevin L. Elliott and Sharon E. Heath and Allan Jiang and Peter Westervelt and John F. DiPersio and Daniel C. Link and Matthew J. Walter and John S. Welch and Richard W. Wilson and Timothy J. Ley and Lucy A Godley and Timothy A. Graubert},
  volume={126 22},
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 are recurrently mutated in de novo AML, we identified rare, nonsynonymous germ line… CONTINUE READING
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