Novel mechanisms of gene disruption at the medulloblastoma isodicentric 17p11 breakpoint

Genes Chromosomes and Cancer

Volumn 48, Issue 2, 2009, Pages 121-131

  McCabe, Martin G ^a   Ichimura, Koichi ^a   Pearson, Danita M ^a   Liu, Lu ^b   Clifford, Steven C ^c   Ellison, David W ^d   Collins, V Peter ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 17; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; DICENTRIC CHROMOSOME; FEMALE; GENE DISRUPTION; GENE MAPPING; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPE; MALE; MEDULLOBLASTOMA; MICROARRAY ANALYSIS; PRIORITY JOURNAL; TUMOR CELL LINE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; HUMANS; MALE; MEDULLOBLASTOMA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; RECOMBINATION, GENETIC;

EID: 59949097396     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20625     Document Type: Article

References (37)

1. Aldosari N, Rasheed BK, McLendon RE, Friedman HS, Bigner DD, Bigner SH. 2000. Characterization of chromosome 17 abnormalities in medulloblastomas. Acta Neuropathol 99:345-351.
2. Badiali M, Pession A, Basso G, Andreini L, Rigobello L, Galassi E, Giangaspero F. 1991. N-myc and c-myc oncogenes amplification in medulloblastomas. Evidence of particularly aggressive behavior of a tumor with c-myc amplification. Tumori 77:118-121.
3. Barbouti A, Stankiewicz P, Nusbaum C, Cuomo C, Cook A, Hoglund M, Johansson B, Hagemeijer A, Park SS, Mitelman F, Lupski JR, Fioretos T. 2004. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet 74:1-10.
4. Batra SK, McLendon RE, Koo JS, Castelino-Prabhu S, Fuchs HE, Krischer JP, Friedman HS, Bigner DD, Bigner SH. 1995. Prognostic implications of chromosome 17p deletions in human medulloblastomas. J Neurooncol 24:39-45.
5. Biegel JA, Rorke LB, Packer RJ, Sutton LN, Schut L, Bonner K, Emanuel BS. 1989. Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system. Genes Chromosomes Cancer 1:139-147.
6. Biegel JA, Burk CD, Barr FG, Emanuel BS. 1992. Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors. Cancer Res 52:3391-3395.
7. Bigner SH, Mark J, Friedman HS, Biegel JA, Bigner DD. 1988. Structural chromosomal abnormalities in human medulloblastoma. Cancer Genet Cytogenet 30:91-101.
8. Burnett ME, White EC, Sih S, von Haken MS, Cogen PH. 1997. Chromosome arm 17p deletion analysis reveals molecular genetic heterogeneity in supratentorial and infratentorial primitive neuroectodermal tumors of the central nervous system. Cancer Genet Cytogenet 97:25-31.
9. Carvalho CM, Lupski JR. Copy number variation at the breakpoint region of isochromosome 17q. Genome Res Epub October, 2008.
10. Cogen PH, Daneshvar L, Metzger AK, Edwards MS. 1990. Deletion mapping of the medulloblastoma locus on chromosome 17p. Genomics 8:279-285.
11. Cogen PH, Daneshvar L, Metzger AK, Duyk G, Edwards MS, Sheffield VC. 1992. Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. Am J Hum Genet 50:584-589.
12. de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, Tsang P, Ben-Dor A, Yakhini Z, Ellis RJ, Bruhn L, Laderman S, Froguel P, Blakemore AI. 2007. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases. Hum Mol Genet 16:2783-2794.
13. Deininger PL, Batzer MA. 1999. Alu repeats and human disease. Mol Genet Metab 67:183-193.
14. Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP. 2003. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36:361-374.
15. Fioretos T, Strombeck B, Sandberg T, Johansson B, Billstrom R, Borg A, Nilsson PG, Van Den Berghe H, Hagemeijer A, Mitelman F, Hoglund M. 1999. Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations. Blood 94:225-232.
16. Ford MG, Mills IG, Peter BJ, Vallis Y, Praefcke GJ, Evans PR, McMahon HT. 2002. Curvature of clathrin-coated pits driven by epsin. Nature 419:361-366.
17. Ichimura K, Mungall AJ, Fiegler H, Pearson DM, Dunham I, Carter NP, Collins VP. 2006. Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH. Oncogene 25:1261-1271.
18. James CD, He J, Carlbom E, Mikkelsen T, Ridderheim PA, Cavenee WK, Collins VP. 1990. Loss of genetic information in central nervous system tumors common to children and young adults. Genes Chromosomes Cancer 2:94-102.
19. Jurka J. 2000. Repbase update: A database and an electronic journal of repetitive elements. Trends Genet 16:418-420.
20. Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tuzun E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE. 2008. Mapping and sequencing of structural variation from eight human genomes. Nature 453:56-64.
21. Koch A, Tonn J, Kraus JA, Sorensen N, Albrecht NS, Wiestler OD, Pietsch T. 1996. Molecular analysis of the lissencephaly gene 1 (LIS-1) in medulloblastomas. Neuropathol Appl Neurobiol 22:233-242.
22. McCabe MG, Ichimura K, Liu L, Plant K, Backlund LM, Pearson DM, Collins VP. 2006. High-resolution array-based comparative genomic hybridization of medulloblastomas and supratentorial primitive neuroectodermal tumors. J Neuropathol Exp Neurol 65:549-561.
23. Mendrzyk F, Korshunov A, Toedt G, Schwarz F, Korn B, Joos S, Hochhaus A, Schoch C, Lichter P, Radlwimmer B. 2006. Iso-chromosome breakpoints on 17p in medulloblastoma are flanked by different classes of DNA sequence repeats. Genes Chromosomes Cancer 45:401-410.
24. Nicholson JC, Ross FM, Kohler JA, Ellison DW. 1999. Comparative genomic hybridization and histological variation in primitive neuroectodermal tumours. Br J Cancer 80:1322-1331.
25. Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C. 2008. The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet 82:685-695.
26. Phelan CM, Liu L, Ruttledge MH, Muntzning K, Ridderheim PA, Collins VP. 1995. Chromosome 17 abnormalities and lack of TP53 mutations in paediatric central nervous system tumours. Hum Genet 96:684-690.
27. Pietsch T, Koch A, Wiestler OD. 1997. Molecular genetic studies in medulloblastomas: Evidence for tumor suppressor genes at the chromosomal regions 1q31-32 and 17p13. Klin Padiatr 209:150-155.
28. Raffel C, Gilles FE, Weinberg KI. 1990. Reduction to homozygosity and gene amplification in central nervous system primitive neuroectodermal tumors of childhood. Cancer Res 50:587-591.
29. Reardon DA, Michalkiewicz E, Boyett JM, Sublett JE, Entrekin RE, Ragsdale ST, Valentine MB, Behm FG, Li H, Heideman RL, Kun LE, Shapiro DN, Look AT. 1997. Extensive genomic abnormalities in childhood medulloblastoma by comparative genomic hybridization. Cancer Res 57:4042-4047.
30. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
31. Rossi MR, Conroy J, McQuaid D, Nowak NJ, Rutka JT, Cowell JK. 2006. Array CGH analysis of pediatric medulloblastomas. Genes Chromosomes Cancer 45:290-303.
32. Russo C, Pellarin M, Tingby O, Bollen AW, Lamborn KR, Mohapatra G, Collins VP, Feuerstein BG. 1999. Comparative genomic hybridization in patients with supratentorial and infra-tentorial primitive neuroectodermal tumors. Cancer 86:331-339.
33. Scott DK, Straughton D, Cole M, Bailey S, Ellison DW, Clifford SC. 2006. Identification and analysis of tumor suppressor loci at chromosome 10q23.3-10q25.3 in medulloblastoma. Cell Cycle 5:2381-2389.
34. Shaw CJ, Lupski JR. 2005. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet 116:1-7.
35. Smith JS, Tachibana I, Allen C, Chiappa SA, Lee HK, McIver B, Jenkins RB, Raffel C. 1999. Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medullo-blastoma tumor suppressor locus. Genomics 59:97-101.
36. Sommer A, Waha A, Tonn J, Sorensen N, Hurlin PJ, Eisenman RN, Luscher B, Pietsch T. 1999. Analysis of the Max-binding protein MNT in human medulloblastomas. Int J Cancer 82:810-816.
37. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV. 1997. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 15:356-362.