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

Churpek, Jane E., Pyrtel, Khateriaa, Kanchi, Krishna-Latha, Shao, Jin, Koboldt, Daniel, Miller, Christopher A., Shen, Dong, Fulton, Robert, O’Laughlin, Michelle, Fronick, Catrina, Pusic, Iskra, Uy, Geoffrey L., Braunstein, Evan M., Levis, Mark, Ross, Julie, Elliott, Kevin, Heath, Sharon, Jiang, Allan, Westervelt, Peter, DiPersio, John F., Link, Daniel C., Walter, Matthew J., Welch, John, Wilson, Richard, Ley, Timothy J., Godley, Lucy A., Graubert, Timothy A.·2015·Blood
DOI 10.1182/blood-2015-04-641100
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Abstract

Key Points: Known pathogenic germ line variants in 12 genes can explain nearly 30% of families with inherited predisposition to MDS/AML. Asymptomatic carriers of germ line RUNX1 mutations develop detectable clonal hematopoiesis with a cumulative risk of >80% by age 50 years.

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Citations

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Research works printed but not linked: 34

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Cited by

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Metadata

Authors
Churpek, J. E., Pyrtel, K., Kanchi, K.-L., Shao, J., Koboldt, D., Miller, C. A., Shen, D., Fulton, R., O’Laughlin, M., Fronick, C., Pusic, I., Uy, G. L., Braunstein, E. M., Levis, M., Ross, J., Elliott, K., Heath, S., Jiang, A., Westervelt, P., DiPersio, J. F., Link, D. C., Walter, M. J., Welch, J., Wilson, R., Ley, T. J., Godley, L. A., & Graubert, T. A.
Venue
Blood
Publisher
American Society of Hematology
Published
2015-11-26
Volume
126
Issue
22
Pages
2484-2490
ISSN
  • 0006-4971
  • 1528-0020
DOI
10.1182/blood-2015-04-641100
Cited by
216
References
4
Language
en

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CoChat. (2026). Citation check: Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. https://app.cochat.ai/papers/10.1182/blood-2015-04-641100
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Churpek, J. E., Pyrtel, K., Kanchi, K.-L., Shao, J., Koboldt, D., Miller, C. A., Shen, D., Fulton, R., O’Laughlin, M., Fronick, C., Pusic, I., Uy, G. L., Braunstein, E. M., Levis, M., Ross, J., Elliott, K., Heath, S., Jiang, A., Westervelt, P., . . . Graubert, T. A. (2015). Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood. https://doi.org/10.1182/blood-2015-04-641100