Confirmation of the Reported Association of Clonal Chromosomal Mosaicism with an Increased Risk of Incident Hematologic Cancer

PLoS ONE

Volumn 8, Issue 3, 2013, Pages

  Schick, Ursula M ^a   McDavid, Andrew ^a   Crane, Paul K ^b   Weston, Noah ^c   Ehrlich, Kelly ^c   Newton, Katherine M ^b,c   Wallace, Robert ^d   Bookman, Ebony ^e   Harrison, Tabitha ^a   Aragaki, Aaron ^a   Crosslin, David R ^b   Wang, Sophia S ^f   Reiner, Alex P ^a,b   Jackson, Rebecca D ^g   Peters, Ulrike ^a   Larson, Eric B ^b,c   Jarvik, Gail P ^b   Carlson, Christopher S ^a,b  

^a Fred Hutchinson Cancer Research Center   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c GROUP HEALTH RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^g OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALGORITHM; ARTICLE; CANCER INCIDENCE; CANCER RISK; CHROMOSOME 13Q; CHROMOSOME 17Q; CHROMOSOME 20Q; CHROMOSOME 2P; CHROMOSOME 4Q; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CLONAL CHROMOSOME MOSAICISM; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HEMATOLOGIC MALIGNANCY; HETEROZYGOSITY LOSS; HETEROZYGOTE; HODGKIN DISEASE; HUMAN; LEUKEMIA; MAJOR CLINICAL STUDY; MALE; MULTIPLE MYELOMA; MYELODYSPLASTIC SYNDROME; NONHODGKIN LYMPHOMA;

AGED; CHROMOSOME DISORDERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEMATOLOGIC NEOPLASMS; HUMANS; MIDDLE AGED; MOSAICISM;

EID: 84875312416     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0059823     Document Type: Article

References (36)

1. Iourov IY, Vorsanova SG, Yurov YB, (2008) Chromosomal mosaicism goes global. Mol Cytogenet 1: 26.
2. Trent RJ (2005) Molecular medicine: an introductory text. Boston: Elsevier Academic Press. vii, 310 p.
3. Laurie CC, Laurie CA, Rice K, Doheny KF, Zelnick LR, et al. (2012) Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet 44: 642-650.
4. Sybert VP, Pagon RA, Donlan M, Bradley CM, (1990) Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr 116: 581-586.
5. Kalousek DK, Barrett IJ, Gartner AB, (1992) Spontaneous abortion and confined chromosomal mosaicism. Hum Genet 88: 642-646.
6. Vorsanova SG, Kolotii AD, Iourov IY, Monakhov VV, Kirillova EA, et al. (2005) Evidence for high frequency of chromosomal mosaicism in spontaneous abortions revealed by interphase FISH analysis. J Histochem Cytochem 53: 375-380.
7. Warburton D, Yu CY, Kline J, Stein Z, (1978) Mosaic autosomal trisomy in cultures from spontaneous abortions. Am J Hum Genet 30: 609-617.
8. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, et al. (2008) Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 122: 1310-1318.
9. Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, et al. (2006) Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 43: 625-633.
10. Yurov YB, Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, et al. (2007) Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One 2: e558.
11. Jasmine F, Rahaman R, Dodsworth C, Roy S, Paul R, et al. (2012) A genome-wide study of cytogenetic changes in colorectal cancer using SNP microarrays: opportunities for future personalized treatment. PLoS One 7: e31968.
12. Rodriguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, et al. (2010) Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am J Hum Genet 87: 129-138.
13. Youssoufian H, Pyeritz RE, (2002) Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 3: 748-758.
14. Greaves M, (2005) In utero origins of childhood leukaemia. Early Hum Dev 81: 123-129.
15. Jacobs KB, Yeager M, Zhou W, Wacholder S, Wang Z, et al. (2012) Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet 44: 651-658.
16. Rowley JD, (1975) Nonrandom chromosomal abnormalities in hematologic disorders of man. Proc Natl Acad Sci U S A 72: 152-156.
17. Shao L, Kang SH, Li J, Hixson P, Taylor J, et al. (2010) Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics. J Mol Diagn 12: 670-679.
18. Yaghmaie M, Gerayeli N, Ghaffari SH, Ghavamzadeh A, Tootian SM, (2009) Some specific chromosomal aberrations of hematologic malignancies in 80 iranian population. International Journal of Hematology-Oncology and Stem Cell Research 3: 28-33.
19. Chen Z, Sandberg AA, (2002) Molecular cytogenetic aspects of hematological malignancies: clinical implications. Am J Med Genet 115: 130-141.
20. Machnicki JL, Bloomfield CD, (1990) Chromosomal abnormalities in myelodysplastic syndromes and acute myeloid leukemia. Clin Lab Med 10: 755-767.
21. Couronne L, Bastard C, Bernard OA, (2012) TET2 and DNMT3A mutations in human T-cell lymphoma. N Engl J Med 366: 95-96.
22. Holmfeldt L, Mullighan CG, (2011) The role of TET2 in hematologic neoplasms. Cancer Cell 20: 1-2.
23. Palamarchuk A, Efanov A, Nazaryan N, Santanam U, Alder H, et al. (2010) 13q14 deletions in CLL involve cooperating tumor suppressors. Blood 115: 3916-3922.
24. Balgobind BV, Van Vlierberghe P, van den Ouweland AM, Beverloo HB, Terlouw-Kromosoeto JN, et al. (2008) Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. Blood 111: 4322-4328.
25. Kennedy SR, Loeb LA, Herr AJ, (2012) Somatic mutations in aging, cancer and neurodegeneration. Mech Ageing Dev 133: 118-126.
26. Thoma CR, Toso A, Meraldi P, Krek W, (2011) Mechanisms of aneuploidy and its suppression by tumour suppressor proteins. Swiss Med Wkly 141: w13170.
27. Larson EB, Kukull WA, Teri L, McCormick W, Pfanschmidt M, et al. (1990) University of Washington Alzheimer's Disease Patient Registry (ADPR): 1987-1988. Aging (Milano) 2: 404-408.
28. Kukull WA, Higdon R, Bowen JD, McCormick WC, Teri L, et al. (2002) Dementia and Alzheimer disease incidence: a prospective cohort study. Arch Neurol 59: 1737-1746.
29. Curb JD, McTiernan A, Heckbert SR, Kooperberg C, Stanford J, et al. (2003) Outcomes ascertainment and adjudication methods in the Women's Health Initiative. Ann Epidemiol 13: S122-128.
30. Washington State Cancer Registry (2011) Cancer codes used in reports. Available: https://fortress.wa.gov/doh/wscr/WSCR/CancerCode.mvc/CancerCode. Accessed 2013 Feb 28.
31. Turner S, Armstrong LL, Bradford Y, Carlson CS, Crawford DC, et al. (2011) Quality control procedures for genome-wide association studies. Curr Protoc Hum Genet Chapter 1: Unit1 19.
32. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
33. Gogarten SM, Laurie C, Bhangale T, Conomos MP, Laurie C, et al. (2011) Classes for storing very large GWAS data sets and annotation, and functions for GWAS data cleaning and analysis. Available: http://www.bioconductor.org/packages/2.12/bioc/html/GWASTools.html. Accessed 2013 Feb 28.
34. Olshen AB, Venkatraman ES, Lucito R, Wigler M, (2004) Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 5: 557-572.
35. R Development Core Team (2011) R: A language and environment for statistical computing. Available: http://www.r-project.org/. Accessed 2013 Feb 28.
36. Lichtman MA, (2008) Battling the hematological malignancies: the 200 years' war. Oncologist 13: 126-138.