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Cited by 216

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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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Research works printed but not linked: 34

  1. Song, 1999, Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia., Nat Genet, 23, 166, 10.1038/13793 · DOI · Paper page
  2. National Center for Biotechnology Information. OMIM: online Mendelian inheritance in man. http://www.ncbi.nlm.nih.gov/omim, article #601399. Accessed April 15, 2015
  3. Smith, 2004, Mutation of CEBPA in familial acute myeloid leukemia., N Engl J Med, 351, 2403, 10.1056/NEJMoa041331 · DOI
  4. Sellick, 2005, Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia., Leukemia, 19, 1276, 10.1038/sj.leu.2403788 · DOI
  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
  6. Hahn, 2011, Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia., Nat Genet, 43, 1012, 10.1038/ng.913 · DOI
  7. Hsu, 2011, Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome., Blood, 118, 2653, 10.1182/blood-2011-05-356352 · DOI
  8. Ostergaard, 2011, Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)., Nat Genet, 43, 929, 10.1038/ng.923 · DOI
  9. Dickinson, 2011, Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency., Blood, 118, 2656, 10.1182/blood-2011-06-360313 · DOI
  10. Polprasert, 2015, Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms., Cancer Cell, 27, 658, 10.1016/j.ccell.2015.03.017 · DOI
  11. Noris, 2013, ANKRD26-related thrombocytopenia and myeloid malignancies., Blood, 122, 1987, 10.1182/blood-2013-04-499319 · DOI
  12. Kirwan, 2012, Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia., Am J Hum Genet, 90, 888, 10.1016/j.ajhg.2012.03.020 · DOI
  13. Zhang, 2015, Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy., Nat Genet, 47, 180, 10.1038/ng.3177 · DOI
  14. Churpek, 2010, Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder., Leuk Lymphoma, 51, 1931, 10.3109/10428194.2010.503821 · DOI
  15. Nissenblatt, 1982, Familial erythroleukemia: four cases of the Diguglielmo syndrome in close relatives., Johns Hopkins Med J, 150, 1
  16. Lee, 1987, Clinical and cytogenetic features of familial erythroleukaemia., Br J Haematol, 65, 313, 10.1111/j.1365-2141.1987.tb06859.x · DOI
  17. Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform., Bioinformatics, 25, 1754, 10.1093/bioinformatics/btp324 · DOI · Paper page
  18. Koboldt, 2012, VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing., Genome Res, 22, 568, 10.1101/gr.129684.111 · DOI
  19. Li, 2009, The sequence alignment/map format and SAMtools., Bioinformatics, 25, 2078, 10.1093/bioinformatics/btp352 · DOI · Paper page
  20. National Center for Biotechnology Information. dbSNP: database of single nucleotide polymorphisms. http://www.ncbi.nlm.nih.gov/SNP, build 135. Accessed April 15, 2015
  21. National Center for Biotechnology Information. ClinVar: a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. http://www.ncbi.nlm.nih.gov/clinvar. Accessed April 15, 2015
  22. Koboldt, 2014, Exome-based mapping and variant prioritization for inherited Mendelian disorders., Am J Hum Genet, 94, 373, 10.1016/j.ajhg.2014.01.016 · DOI
  23. Kim, 2013, Frameshift mutations of chromosome cohesion-related genes SGOL1 and PDS5B in gastric and colorectal cancers with high microsatellite instability., Hum Pathol, 44, 2234, 10.1016/j.humpath.2013.04.017 · DOI
  24. Blighe, 2014, Whole genome sequence analysis suggests intratumoral heterogeneity in dissemination of breast cancer to lymph nodes., PLoS One, 9, e115346, 10.1371/journal.pone.0115346 · DOI
  25. West, 2014, Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation., Haematologica, 99, 276, 10.3324/haematol.2013.090217 · DOI
  26. Bödör, 2012, Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival., Haematologica, 97, 890, 10.3324/haematol.2011.054361 · DOI
  27. Yoshimi, 2014, Recurrent CDC25C mutations drive malignant transformation in FPD/AML., Nat Commun, 5, 4770, 10.1038/ncomms5770 · DOI
  28. Walter, 2012, Clonal architecture of secondary acute myeloid leukemia., N Engl J Med, 366, 1090, 10.1056/NEJMoa1106968 · DOI
  29. Xie, 2014, Age-related mutations associated with clonal hematopoietic expansion and malignancies., Nat Med, 20, 1472, 10.1038/nm.3733 · DOI · Paper page
  30. Goldin, 2012, Familial aggregation of acute myeloid leukemia and myelodysplastic syndromes., J Clin Oncol, 30, 179, 10.1200/JCO.2011.37.1203 · DOI
  31. Tung, 2015, Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel., Cancer, 121, 25, 10.1002/cncr.29010 · DOI
  32. Zhang, 2015, Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity., Haematologica, 100, 42, 10.3324/haematol.2014.113456 · DOI
  33. Thota, 2014, Genetic alterations of the cohesin complex genes in myeloid malignancies., Blood, 124, 1790, 10.1182/blood-2014-04-567057 · DOI
  34. Abkowitz, 2014, Clone wars--the emergence of neoplastic blood-cell clones with aging., N Engl J Med, 371, 2523, 10.1056/NEJMe1412902 · DOI · Paper page

Cited by

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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