Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia-Reference-Cited by-同舟云学术

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

Published:2015-11-26 Issue:22 Volume:126 Page:2484-2490
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Churpek Jane E.¹,Pyrtel Khateriaa²,Kanchi Krishna-Latha³,Shao Jin²,Koboldt Daniel²³⁴,Miller Christopher A.³,Shen Dong⁵,Fulton Robert³,O’Laughlin Michelle³,Fronick Catrina³,Pusic Iskra⁴,Uy Geoffrey L.⁴,Braunstein Evan M.⁶,Levis Mark⁶,Ross Julie⁷,Elliott Kevin²,Heath Sharon²,Jiang Allan⁴,Westervelt Peter²⁴,DiPersio John F.²⁴,Link Daniel C.²⁴,Walter Matthew J.²⁴,Welch John²⁴,Wilson Richard²³,Ley Timothy J.²³⁴,Godley Lucy A.¹,Graubert Timothy A.⁸

Affiliation:

1. Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;

2. Siteman Cancer Center,

3. The Genome Institute, and

4. Division of Oncology, Department of Medicine, Washington University, St Louis, MO;

5. Medimmune/AstraZeneca, Gaithersburg, MD;

6. Sidney Kimmel Cancer Center, Johns Hopkins University, Baltimore, MD;

7. Department of Medicine, University of Minnesota, Minneapolis, MN; and

8. Massachusetts General Hospital Cancer Center, Boston, MA

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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/126/22/2484/1390357/2484.pdf

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5. National Center for Biotechnology Information. OMIM: online Mendelian inheritance in man. http://www.ncbi.nlm.nih.gov/omim, article #116897. Accessed April 15, 2015

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