Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk

Blood

Volumn 115, Issue 22, 2010, Pages 4472-4477

  Hosking, Fay J ^a   Papaemmanuil, Elli ^a   Sheridan, Eammon ^b   Kinsey, Sally E ^b   Lightfoot, Tracy ^c   Roman, Eve ^c   Irving, Julie A E ^d   Allan, James M ^d   Taylor, Malcolm ^e   Tomlinson, Ian P ^f   Greaves, Mel ^a   Houlston, Richard S ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF YORK   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN RECEPTOR;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; CANCER RISK; CHILD; FEMALE; GENE LOCATION; GENE MAPPING; GENETIC ASSOCIATION; GENOME ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRE B LYMPHOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; CAUCASIAN; CHROMOSOME MAP; GENETICS; HOMOZYGOTE; INFANT; RECESSIVE GENE; UNITED KINGDOM;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, RECESSIVE; GENOME-WIDE ASSOCIATION STUDY; GREAT BRITAIN; HOMOZYGOTE; HUMANS; INFANT; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECURSOR B-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; RECEPTORS, ERYTHROPOIETIN; RISK FACTORS;

EID: 77953942939     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-09-244483     Document Type: Article

References (31)

1. Stiller CA, Parkin DM. Geographic and ethnic variations in the incidence of childhood cancer. Br Med Bull. 1996;52(4):682-703. (Pubitemid 27007679)
2. Papaemmanuil E, Hosking FJ, Vijayakrishnan J, et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1006-1010.
3. Treviño LR, Yang W, French D, et al. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1001-1005.
4. Bener A, El Ayoubi HR, Chouchane L, et al. Impact of consanguinity on cancer in a highly endogamous population. Asian Pac J Cancer Prev. 2009;10(1):35-40.
5. Feldman JG, Lee SL, Seligman B. Occurrence of acute leukemia in females in a genetically isolated population. Cancer. 1976;38(6):2548-2550. (Pubitemid 8015217)
6. Abramson JH, Pridan H, Sacks MI, Avitzour M, Peritz E. A case-control study of Hodgkin's disease in Israel. J Natl Cancer Inst. 1978;61(2):307-314. (Pubitemid 9019562)
7. Lebel RR, Gallagher WB. Wisconsin consanguinity studies: II. Familial adenocarcinomatosis. Am J Med Genet. 1989;33(1):1-6.
8. Shami SA, Qaisar R, Bittles AH. Consanguinity and adult morbidity in Pakistan. Lancet. 1991;338(8772):954.
9. Simpson JL, Martin AO, Elias S, Sarto GE, Dunn JK. Cancers of the breast and female genital system: search for recessive genetic factors through analysis of human isolate. Am J Obstet Gynecol. 1981;141(6):629-636. (Pubitemid 12236199)
10. Demant P. Cancer susceptibility in the mouse: genetics, biology and implications for human cancer. Nat Rev Genet. 2003;4(9):721-734. (Pubitemid 37046139)
11. Henry I, Bonaiti-Pellie C, Chehensse V, et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature. 1991;351(6328):665- 667.
12. Lencz T, Lambert C, DeRosse P, et al. Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. Proc Natl Acad Sci U S A. 2007;104(50):19942-19947.
13. Assié G, LaFramboise T, Platzer P, Eng C. Frequency of germline genomic homozygosity associated with cancer cases. JAMA. 2008;299(12):1437-1445.
14. Bacolod MD, Schemmann GS, Wang S, et al. The signatures of autozygosity among patients with colorectal cancer. Cancer Res. 2008;68(8):2610-2621.
15. United Kingdom Childhood Cancer Study Investigators. The United Kingdom Childhood Cancer Study: objectives, materials and methods. Br J Cancer. 2000;82(5):1073-1102.
16. Power C, Elliott J. Cohort profile: 1958 British birth cohort (National Child Development Study). Int J Epidemiol. 2006;35(1):34-41.
17. Tomlinson IP, Webb E, Carvajal-Carmona L, et al. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet. 2008;40(5):623-630. (Pubitemid 351601204)
18. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-575.
19. Voight BF, Kudaravalli S, Wen X, Pritchard JK. A map of recent positive selection in the human genome. PLoS Biol. 2006;4(3):e72.
20. Tajima F. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics. 1989;123(3):585-95.
21. Holsinger KE, Weir BS. Genetics in geographically structured populations: defining, estimating and interpreting F(ST). Nat Rev Genet. 2009;10(9):639-650.
22. A haplotype map of the human genome. Nature. 2005;437(7063):1299-1320.
23. Wang ET, Kodama G, Baldi P, Moyzis RK. Global landscape of recent inferred Darwinian selection for Homo sapiens. Proc Natl Acad Sci U S A. 2006;103(1):135-140.
24. Williamson SH, Hubisz MJ, Clark AG, Payseur BA, Bustamante CD, Nielsen R. Localizing recent adaptive evolution in the human genome. PLoS Genet. 2007;3(6):e90.
25. Fine BM, Stanulla M, Schrappe M, et al. Gene expression patterns associated with recurrent chromosomal translocations in acute lymphoblastic leukemia. Blood. 2004;103(3):1043-1049.
26. Gibson J, Morton NE, Collins A. Extended tracts of homozygosity in outbred human populations. Hum Mol Genet. 2006;15(5):789-795.
27. Simon-Sanchez J, Scholz S, Fung HC, et al. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet. 2007;16(1):1-14.
28. Li LH, Ho SF, Chen CH, et al. Long contiguous stretches of homozygosity in the human genome. Hum Mutat. 2006;27(11):1115-1121.
29. Broman KW, Weber JL. Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet. 1999;65(6):1493-1500.
30. Woods CG, Cox J, Springell K, et al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet. 2006;78(5):889-896.
31. Spain SL, Cazier JB, Houlston R, Carvajal-Carmona L, Tomlinson I. Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom. Cancer Res. 2009;69(18):7422-7429.