Genetics of Beckwith-Wiedemann syndrome-associated tumors: Common genetic pathways

Genes Chromosomes and Cancer

Volumn 28, Issue 1, 2000, Pages 1-13

  Steenman, Marja ^a   Westerveld, Andries ^a   Mannens, Marcel ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL CORTEX CARCINOMA; BECKWITH WIEDEMANN SYNDROME; CHILDHOOD CANCER; CHROMOSOME 11P; CHROMOSOME ABERRATION; DISEASE ASSOCIATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEPATOBLASTOMA; NEPHROBLASTOMA; ONCOGENE; PRIORITY JOURNAL; REVIEW; RHABDOMYOSARCOMA;

EID: 0034024407     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-2264(200005)28:1<1::aid-gcc1>3.0.co;2-%23     Document Type: Review

References (177)

1. Albrecht S, von Schweinitz D, Waha A, Kraus J, von Deissling A, Pietsch T. 1994. Loss of maternal alleles on chromosome arm 11p in hepatoblastoma. Cancer Res 54:5041-5044.
2. Alders M, Hodges M, Hadjantonakis A, Postmus J, van Wijk I, Blick J, de Meulemeester M, Westerveld A, Guillemot F, Oudejans C, Little P, Mannens M. 1997. The human Achaete-Scute homologue 2 (ASCL2, HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. Hum Mol Genet 6:859-867.
3. Austruy E, Candon S, Henry I, Gyapay G, Tournade M, Mannens M, Callen D, Junien C, Jeanpierre C. 1995. Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigencsis. Genes Chromosomes Cancer 14:285-294.
4. Bardeesy N, Falkoff D, Petruzzi M, Nowak N, Zabel B, Adam M, Aguiar M, Grundy P, Shows T, Pelletier J. 1994. Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations. Nat Genet 7:91-97.
5. Barr F, Galili N, Holick J, Biegel J, Rovera G, Emanuel B. 1993. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet 3:113-117.
6. Barr F, Nauta L, Davis R, Schafer B, Nycum L, Biegel J. 1996. In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. Hum Mol Genet 5:15-21.
7. Beckwith J. 1963. Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and leydig-cell hyperplasia: another syndrome? LA: Western Society for Pediatric Research.
8. Beckwith J. 1969. Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects 5:188-196.
9. Bernard J, Baeteman M, Mattei J, Raybaud C, Giraud F. 1984. Wilms' tumor, malformative syndrome, mental retardation and de novo constitutional translocation, t(7;13)(q36;q13). Eur J Pediatr 141:175-177.
10. Biegel J, Meek R, Parmiter A, Conard K, Emanuel B. 1991. Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma. Genes Chromosomes Cancer 3:483-484.
11. Bove K, Soukup S, Ballard K, Ryckman F. 1996. Hepatoblastoma in a child with trisomy 18: cytogenetics, liver anomalies, and literature review. Ped Pathol Lab Med 16:253-262.
12. Brannan C, Dees E, Ingram R, Tilghman S. 1990. The product of the H19 gene may function as an RNA. Mol Cell Biol 10:28-36.
13. Breslow N. 1997. Wilms' tumor: epidemiology. In: Bertino JR, editor. Encyclopedia of cancer, vol. 3. ISBN 012093230x New York: Academic Press, p 2003-2013.
14. Brown K, Wilmore H, Watson J, Mott M, Berry P, Maitland N. 1993. Low frequency of mutations in the WT1 coding region in Wilms' tumor. Genes Chromosomes Cancer 8:74-79.
15. Byrne J, Simms L, Little M, Algar E, Smith P. 1993. Three non-overlapping regions of chromosome arm 11p allele loss identified in infantile tumors of adrenal and liver. Genes Chromosomes Cancer 8:104-111.
16. Call K, Glaser T, Ito C, Buckler A, Pelletier J, Haber D, Rose E, Kral A, Yeger H, Lewis W, Jones C, Housman D. 1990. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60:509-520.
17. Casola S, Redone P, Cavazzana A, Basso G, Luksch R, d'Amore E, Carli M, Bruni C, Riccio A. 1997. Expression and parental imprinting of the H19 gene in human rhabdomyosarcoma. Oncogene 14(12):1503-1510.
18. Catchpoole D, Lam W, Valler D, Temple I, Joyce J, Reik W, Schofield P, Maher E. 1997. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet 34:353-359.
19. Chandrasekharrapa S, Guru S, Manickam P, Olufemi S, Collins F, Emmert-Buck M, Debelenko L, Zhuang Z, Lubensky I, Liotta L, Crabtree J, Wang Y, Roe B, Weisemann J, Boguski M, Agarwal S, Kester M, Kim Y, Heppner C, Dong Q, Spiegel A, Burns A, Marx S. 1997. Positional cloning of the gene for multiple endocrine neoplasia type 1. Science 276:404-407.
20. Chung W, Yuan L, Feng L, Hensle T, Tycko B. 1996. Chromosome 11p15.5 regional imprinting: comparative analysis of KIP2 and H19 in human tissues and Wilms' tumors. Hum Mol Genet 5:1101-1108.
21. Cohen M. 1989. A comprehensive and critical assessment of overgrowth and overgrowth syndromes. Adv Hum Genet 18:181-303.
22. Coppes M, Bonetta L, Huang A, Hoban P, Chilton-MacNeill S, Campbell E, Weksberg R, Yeger H, Reeve A, Williams B. 1992. Loss of heterozygosity mapping in Wilms' tumour indicates the involvement of three distinct regions and a limited role for non-disjunction or mitotic recombination. Genes Chromosomes Cancer 5:326-334.
23. Davis R, Barr F. 1997. Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma. Proc Natl Acad Sci USA 94:8047-8051.
24. Davis R, D'Cruz C, Lovell M, Biegel J, Barr F. 1994. Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res 54:2869-2872.
25. DeChiara T, Efstradiatis A, Robertson E. 1990. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 345:78-80.
26. Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W. 1967. Association d'un syndrome anatomopathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nehpropathie parenchymateuse et d'un mosaicisme XX/XY. Arc Fr Pediatr 24:729-739.
27. Dias P, Kumar P, Marsden H, Guttamaneni H, Heighway J, Kumar S. 1990. N-myc gene is amplified in alveolar rhabdomyosarcoma (RMS) but not in embryonal RMS. Int J Cancer 45:593-596.
28. Douglass E, Valentine M, Etcubanas E, Parham D, Webber B, Houghton P, Green A. 1987. A specific chromosomal abnormality in rhabdomyosarcoma. Cytogenet Cell Genet 45:148-155.
29. Douglass E, Rave S, Valentine M, Parham D, Berkow R, Bowman W, Maurer H. 1991. Variant translocations of chromosome 13 in alveolar rhabdomyosarcoma. Genes Chromosomes Cancer 3:480-482.
30. Drash A, Sherman F, Hartmann W, Blizzard R. 1970. A syndrome of pseudohermaphroditism, Wilms tumour, hypertension, and degenerative renal disease. J Pediatr 76:585-593.
31. Driman D, Thorner P, Greenberg M, Chilton-MacNeill S, Squire J. 1994. MYCN gene amplification in rhabdomyosarcoma. Cancer 73:2231-2237.
32. Eggenschwiler J, Ludwig T, Fisher P, Leighton P, Tilghman S, Efstradiatis A. 1997. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Genes Dev 11:3128-3142.
33. El-Badry O, Minniti C, Kohn F, Houghton P, Daughaday W, Helman L. 1990. Insulin-like growth factor II acts as an autocrine growth and motility factor in human rhabdomyosarcoma tumors. Cell Growth Diff 1:325-331.
34. Elliott M, Bayly R, Cole T, Temple I, Maher E. 1994. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 46:168-174.
35. Enzinger F, Weiss S. 1983. Soft tissue tumors. St. Louis: Mosby, p 338-378.
36. Faucette K, Carey J, Lemons R, Toledano S. 1991. Trisomy 18 and Wilms tumor: is there an association? Clin Res 39:96A
37. Felix C, Chavez Kappel C, Mitsudomi T, Nau M, Tsokos M, Crouch G, Nisen P, Winick N, Helman L. 1992. Frequency and diversity of p53 mutations in childhood rhabdomyosarcoma. Cancer Res 52:2243-2247.
38. Forus A, Florenes V, Maelandsmo G, Meltzer P, Fodstad O, Myklebost O. 1993. Mapping of amplification units in the q13-q14 region of chromosome 12 in human sarcomas: some amplica do not include MDM2. Cell Growth Diff 4:1065-1070.
39. Galili N, Davis R, Fredericks W, Mukhopadhyy S, Rauscher F, Emanuel B, Rovera G, Barr F. 1993. Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet 5:230-235.
40. Garber J, Li F, Kingston J, Krush A, Strong L, Finegold M, Bertario L, Bulow S, Filippone A, Gedde-Dahl T, Jarvinen H. 1988. Hepatoblastoma and familial adenomatous polyposis. J Natl Cancer Inst 80:1626-1628.
41. Gardner E. 1972. Discovery of the Gardner syndrome. Birth Defects 2:48-51.
42. Geiser C, Schindler A. 1969. Long survival in a male with trisomy 18 and Wilms tumor. Pediatrics 44:111-115.
43. Gessler M, Poustka A, Cavenee W, Neve R, Orkin S, Bruns G. 1990. Homozygous deletion in Wilms' tumours of a zinc-finger gene identified by chromosome jumping. Nature 343:774-778.
44. Gessler M, Konig A, Arden K, Grundy P, Orkin S, Sallan S, Peters C, Ruyle S, Mandell J, Li F, Cavenee W, Bruns G. 1994. Infrequent mutation of the WT1 gene in 77 Wilms' tumors. Hum Mutat 3:212-222.
45. Giannoukakis N, Deal C, Paquette J, Goodyer C, Polychronakos C. 1993. Parental genomic imprinting of the human IGF2 gene. Nat Genet 4:98-101.
46. Giardiello F, Offerhaus G, Krush A, Booker S, Tersmette A, Mulder J, Kelley C, Hamilton S. 1991. Risk of hepatoblastoma in familial adenomatous polyposis. J Pediatr 119:766-768.
47. Gicquel C, Bertagna X, Schneid H, Francillard-Leblond M, Luton J, Girard F, Le Bouc Y. 1994. Rearrangements at the 11p15 locus and overexpression of insulin-like growth factor-II gene in sporadic adrenocortical tumors. J Clinic Endocrin Metabol 78:1444-1453.
48. Giequel C, Bertagna X, Le Bouc Y. 1995. Recent advances in the pathogenesis of adrenocortical tumours. Eur J Endocrin 133:133-144.
49. Gicquel C, Raffin-Sanson M, Gaston V, Bertagna X, Plouin P, Schlumberger M, Louvel A, Luton J, Le Bonc Y. 1997. Structural and functional abnormalities at 11p15 are associated with the malignant phenotype in sporadic adrenocortical tumors: Study on a series of 82 tumors. J Clinic Endocrin Metabol 82:2559-2565.
50. Gould T, Pfeiffer K. 1998. Imprinting of mouse kvlqt1 is developmentally regulated. Hum Mol Genet 7:483-487.
51. Groden J, Thliveris A, Samowitz W, Carison M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff J, Burt R, Hughes J, Warrington J, McPherson J, Wasmnth J, Paslier D, Abderrahim H, Cohen D, Leppert M, White R. 1991. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589-600.
52. Grundy P, Telzerow P, Breslow N, Moksness J, Huff V, Paterson M. 1994. Loss of heterozygosity for chromosomes 16q and 1p in Wilms' tumor predicts an adverse outcome. Cancer Res 54:2331-2333.
53. Grundy R, Prirchard J, Scambler P, Cowell J. 1998a. Loss of heterozygosity on chromosome 16 in sporadic Wilms' tumour. Br J Cancer 78:1181-1187.
54. Grundy R, Pritchard J, Scambler P, Cowell J. 1998b. Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour. Oncogene 17:395-400.
55. Guillemot F, Nagy A, Auerbach A, Rossant J, Joyner A. 1994. Essential role of Mash2 in extraembryonic development. Nature 371:333-336.
56. Hartley A, Birch J, Tricker K, Wallace S, Kelsey A, Harris M, Morris Jones P. 1993. Wilms' tumor in the Li-Fraumeni cancer family syndrome. Cancer Genet Cytogenet 67:133-135.
57. KIP2 and its reduced expression in Wilms' tumors. Hum Mol Genet 5:783-788.
58. Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T. 1996b. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 14:171-173.
59. Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C. 1991. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351:665-667.
60. Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade M, Landrieu P, Junien C. 1993. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J Hum Genet 1:19-29.
61. Hewitt M, Lunt P, Oakhill A. 1991. Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial aplasia. J Med Genet 28:411-412.
62. Hollstein M, Sidransky D, Vogelstein B, Harris C. 1991. p53 mutations in human cancers. Science 253:49-54.
63. Hoovers J, Kalikin L, Johnson L, Alders M, Redeker B, Law D, Bliek J, Steenman M, Benedict M, Wiegant J, Cremer T, Taillon-Miller P, Schlessinger U, Ivens A, Westerveld A, Little P, Mannens M, Feinberg A. 1995. Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci USA 92:12456-12460.
64. Horn R, Enterline H. 1958. Rhabdomyosarcoma: a clinicopathological study and classification of 39 cases. Cancer 11:181-199.
65. Hu R, Lee M, Connors T, Johnson L, Burn T, Su K, Landes G, Feinberg A. 1997. A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes. Genomics 46:9-17.
66. Hughes L, Michels V. 1992. Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet 43:1023-1025.
67. Ishak K, Glunz P. 1967. Hepatoblastoma and hepatocarcmoma in infancy and childhood. Cancer 20:396-422.
68. Joyce J, Lam W, Catchpoole D, Jenks P, Reik W, Maher E, Schofield P. 1997. Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum Mol Genet 6:1543-1548.
69. Junien C, Henry I. 1994. Genetics of Wilms' tumor: a blend of aberrant development and genomic imprinting. Kidney Int 46: 1264-1279.
70. Kar S, Jaffe R, Carr B. 1993. Mutation at codon 249 of the p53 gene in a human hepatoblastoma. Hepatology 18:566-569.
71. Karayalcin G, Shanske A, Honigman R. 1981. Wilms' tumor in a 13 year old girl with trisomy 18. Am J Dis Child 135:665-667.
72. Karnik P, Chen P, Paris M, Yeger H, Williams B. 1998. Loss of heterozygosity at chromosome 11p15 in Wilms tumors: identification of two independent regions. Oncogene 17:237-240.
73. Kiechle-Schwarz M, Scherer G, Kovacs G. 1989. Cytogenetic and molecular studies on six sporadic hepatoblastomas. Cancer Genet Cytogenet 41:286.
74. Kingston J, Herbert A, Draper G, Mann J. 1983. Association between hepatoblastoma and polyposis coli. Arch Dis Child 58:959-962.
75. Kjellman M, Kallioniemi O, Karhu R, Hoog A, Farnebo L, Auer G, Larsson C, Backdahl M. 1996. Genetic aberrations in adrenocortical tumors detected using comparative genomic hybridization correlate with tumor size and malignancy. Cancer Res 56:4219-4223.
76. Klamt B, Schulze M, Thate C, Mares J, Goetz P, Kodet R, Scheurlen W, Weirich A, Graf N, Gessler M. 1998. Allele loss in Wilms tumors of chromosome arms 11q, 16q, and 22q correlates with clinicopathological parameters. Genes Chromosomes Cancer 22: 287-294.
77. Koi M, Johnson L, Kalikin L, Little P, Nakamura Y, Feinberg A. 1993. Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11. Science 260:361-364.
78. Koufos A, Hansen M, Copeland N, Jenkins N, Lampkin B, Cavenee W. 1985. Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism. Nature 316:330-334.
79. Koufos A, Grundy P, Morgan K, Aleck K, Hadro T, Lampkin B, Kalbakji A, Cavenee W. 1989. Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet 44:711-719.
80. Kraus J, Albrecht S, Wiestler O, von Schweinitz D, Pietsch T. 1996. Loss of heterozygosity on chromosome 1 in human hepatoblastonva. Int J Cancer 67:467-471.
81. Krush A, Traboulsi E, Offerhaus G, Maumenee I, Yardley J, Levin L. 1988. Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. Am J Med Genet 29:323-332.
82. Kurahashi H, Takami K, Oue T, Kusafuka T, Okada A, Tawa A, Okada S, Nishisho I. 1995. Biallelic inactivation of the APC gene in hepatoblastoma. Cancer Res 55:5007-5011.
83. KIP2 mutation in Beckwith-Wiedemann syndrome. Am J Hum Genet 61:304-309.
84. Lee M, Hu R, Johnson L, Feinberg A. 1997b. Human KCNQ1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet 15:181-185.
85. Leighton P, Ingram R, Eggenschwiler J, Efstradiatis A, Tilghman S. 1995a. Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375:34-39.
86. Leighton P, Saam J, Ingram R, Stewart C, Tilghman S. 1995b. An enhancer deletion affects both H19 and Igf2 expression. Genes Dev 9:2079-2089.
87. Li F, Fraumeni J. 1969a. Rhabdomyosarcoma in children. J Natl Cancer Inst 43:1365-1373.
88. Li F, Fraumeni J. 1969b. Soft-tissue sarcomas, breast cancer, and other neoplasms: a familial syndrome? Ann Intern Med 71:747-752.
89. Li F, Thurber W, Seddon J, Holmes G. 1987. Hepatoblastoma in families with polyposis coli. J Am Med Assoc 257:2475-2477.
90. Li X, Adam G, Cui H, Sandstedt B, Ohlsson R, Ekstrom T. 1995. Expression, promoter usage and parental imprinting status of insulin-like growth factor II (IGF2) in human hepatoblastoma: uncoupling of IGF2 and H19 imprinting. Oncogene 11:221-229.
91. Lipsett M, Hertz R, Ross G. 1963. Clinical and pathophysiologic aspects of adrenocortical carcinoma. Am J Med 35:374.
92. Malkin D, Li F, Strong L, Fraumeni J, Nelson C, Kim D, Kassel J, Gryka M, Bischoff F, Tainsky M, Friend S. 1990. Germ line P53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233-1238.
93. Mann J, Kasthuri N, Raafat F, Pincott J, Parkes S, Muir K, Ingram L, Cameron A. 1990. Malignant hepatic tumours in children: incidence, clinical features and aetiology. Paediatr Perinatal Epidemiol 4:276-289.
94. Mannens M, Slater R, Heyting C, Bliek J, de Kraker J, Coad N, de Pagter-Holthuizen P, Pearson P. 1988. Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours. Hum Genet 81:41-48.
95. Mannens M, Devilee P, Bliek J, Mandjes I, de Kraker J, Heyting C, Slater R, Westerveld A. 1990. Loss of heterozygosity in Wilms' tumours, studied for 6 putative tumour suppressor regions, is limited to chromosome 11. Cancer Res 50:3279-3283.
96. Mannens M, Hoovers J, Redeker E, Verjaal M, Feinberg A, Little P, Boavida M, Coad N, Steenman M, Bliek J, Niikawa N, Tonoki H, Nakamura Y, de Boer E, Slater R, John R, Cowell J, Junien C, Henry I, Tommerup N, Weksberg R, Pueschel S, Leschot N, Westerveld A. 1994. Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet 2:3-23.
97. Mannens M, Alders M, Redeker B, Bliek J, Steenman M, Wiesmeyer C, de Meulemeester M, Ryan A, Kalikin L, Voute P, de Kraker J, Hoovers J, Slater R, Feinberg A, Little P, Westerveld A. 1996. Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. Med Pediatr Oncol 27:490-494.
98. Matsuoka S, Edwards M, Bai C, Parker S, Zhang P, Baldini A, Harper J, Elledge S. 1995. p57KIP2, structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev 9:650-662.
99. KIP2, on chromosome 11p15. Proc Nad Acad Sci USA 93:3026-3030.
100. Maw M, Grundy P, Millow L, Eccles M, Dunn R, Smith P, Feinberg A, Law D, Paterson M, Telzerow P, Callen D, Thompson A, Richards R, Reeve A. 1992. A third Wilms' tumor locus on chromosome 16q. Cancer Res 52:3094-3098.
101. McBride G. 1997. Mom and pop genetics: genomic imprinting changes may illuminate cancer. J Natl Cancer Inst 89:1256-1258.
102. Miozzo M, Perotti D, Minoletti F, Mondini P, Pilotti S, Luksch R, Fossati-Bellani F, Pierotti M, Sozzi G, Radice P. 1996. Mapping of a putative tumor suppressor locus to proximal 7p in Wilms tumors. Genomics 37:310-315.
103. Montagna M, Menin C, Chieco-Bianchi L, D'Andrea E. 1994. Occasional loss of constitutive heterozygosity at 11p15.5 and imprinting relaxation of the IGFII maternal allele in hepatoblastoma. J Cancer Res Clin Oncol 120:732-736.
104. Morison I, Becroft D, Taniguchi T, Woods C, Reeve A. 1996. Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nat Med 2:311-316.
105. Moulton T, Crenshaw T, Hao Y, Moosikasuwan J, Lin N, Dembitzer F, Hensle T, Weiss L, McMorrow L, Loew T, Kraus W, Gerald W, Tycko B. 1994. Epigenetic lesions at the H19 locus in Wilms' tumour patients. Nat Genet 7:440-447.
106. Moutou C, Hochez J, Chompret A, Tournade M, Le Bihan C, Zucker J, Lemerle J, Bonaiti-Pellie C. 1994. The French Wilms' tumour study: no clear evidence for cancer prone families. J Med Genet 31:429-434.
107. Mrozek K, Arthur D, Karakousis C, Koduru P, Le Beau M, Pettenati M, Tantravahi R, Mrozek E, Perez-Mesa C, Rao U, Frankel S, Davey F, Bloomfield C. 1995. Der(16)t(1;16) is a nonrandom secondary chromosome aberration in many types of human neoplasia, including myxoid liposarcoma, rhabdomyosarcoma and Philadelphia chromosome-positive acute lymphoblastic leukemia. Int J Oncol 6:531-538.
108. Mueller R. 1994. The Denys-Drash syndrome. J Med Genet 31: 471-477.
109. Newsham I, Kindler-Rohrborn A, Daub D, Cavenee W. 1995. A constitutional BWS-related t(11;16) chromosome translocation occurring in the same region of chromosome 16 implicated in Wilms' tumors. Genes Chromosomes Cancer 12:1-7.
110. Newton W, Soule E, Hamoudi A, Reiman A, Shimada H, Beltangady M, Maurer H. 1988. Histopathology of childhood sarcomas: Intergroup Rhabdomyosarcoma Studies I and II - clinicopathologic correlation. J Clin Oncol 6:67-75.
111. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guichency P. 1997. A novel mutation in the potassium channel gene KCNQ1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 15:186-189.
112. Nystrom A, Hedborg F, Ohlsson R. 1994. Insulin-like growth factor 2 cannot be linked to a familial form of Beckwith-Wiedemann syndrome. Eur J Pediatr 153:574-580.
113. KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors. Am J Hum Genet 61:295-303.
114. Oda H, Imai Y, Nakatsuru Y, Hata J, Ishikawa T. 1996. Somatic mutations of the APC gene in sporadic hepatoblastomas. Cancer Res 56:3320-3323.
115. Ogawa O, Eccles M, Szeto J, McNoe L, Yun K, Maw M, Smith P, Reeve A. 1993. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature 362:749-751.
116. Ohgaki H, Kleihues P, Heitz P. 1993. p53 mutations in sporadic adrenocortical tumors. Int J Cancer 54:408-410.
117. KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth? J Med Genet 35:86.
118. Pang J, Thakker R. 1994. Multiple endocrine neoplasia type 1 (MEN1). Eur J Cancer 30A:1961-1968.
119. Pedone P, Tirabosco R, Cavazzana A, Ungaro P, Basso G, Luksch R, Carli M, Bruni C, Frunzio R, Riccio A. 1994. Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors. Hum Mol Genet 3:1117-1121.
120. Peier A, Meloni A, Erling M, Sandberg A. 1995. Involvement of chromosome 7 in Wilms tumor. Cancer Genet Cytogenet 79:92-94.
121. Pettenati M, Haines J, Higgins R, Wappner R, Palmer C, Weaver D. 1986. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 74:143-154.
122. Ping A, Reeve A, Law D, Young M, Boehnke M, Feinberg A. 1989. Genetic linkage of Beckwith-Wiedemann syndrome to 11p15. Am J Hum Genet 44:720-723.
123. Qian N, Frank D, Okeefe D, Dao D, Zhao L, Yuan L, Wang Q, Keating M, Walsh C, Tycko B. 1997. The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in fas expression and apoptosis. Hum Mol Genet 6:2021-2029.
124. Rachmilewitz J, Groshen R, Ariel I, Schneider T, de Groot N, Hochberg A. 1992. Parental imprinting of the human H19 gene. FEBS Letters 309:25-28.
125. Radice P, Pilotti S, De Benedetti V, Mondini P, Miozzo M, Luksch R, Fossati-Bellani F, Della Porta G, Pierotti M. 1993. Homozygous intragenic loss of the WT1 locus in a sporadic intralobar Wilms' tumor. Int J Cancer 55:174-176.
126. Rainier S, Johnson L, Dobry C, Ping A, Grundy P, Feinberg A. 1993. Relaxation of imprinted genes in human cancer. Nature 362:747-749.
127. Rainier S, Dobry C, Feinberg A. 1995. Loss of imprinting in hepatoblastoma. Cancer Res 55:1836-1838.
128. Raney R, Hays D, Tefft M, Triche T. 1993. Rhabdomyosarcoma and the Undifferentiated Sarcomas: Principles and Practice of Pediatric Oncology. Philadelphia: J.B. Lippincott, p 769-794.
129. Reeve A, Housiaux P, Gardner R, Chewings W, Grindley R, Millow L. 1984. Loss of a Harvey ras allele in sporadic Wilms' tumour. Nature 309:174-176.
130. Reeve A, Sih S, Raizis A, Feinberg A. 1989. Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells. Mol Cell Biol 9:1799-1803.
131. Reid L, West A, Gioeli D, Phillips K, Kelleher K, Araujo D, Stanbridge E, Dowdy S, Gerhard D, Weissman B. 1996. Localization of a tumor suppressor gene in 11p15.5 using the G401 Wilms' tumor assay. Hum Mol Genet 5:239-247.
132. Reik W, Brown K, Schneid H, Le Bouc Y, Bickmore W, Maher E. 1995. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 4:2379-2385.
133. Reincke M. 1998. Mutations in adrenocortical tumors. Hormone Metab Res 30:447-455.
134. Reincke M, Karl M, Travis W, Mastorakos G, Allolio B, Linehan M, Chrousos G. 1994. p53 mutations in human adrenocortical neoplasms: immunohistochemical and molecular studies. J Clin Endocrin Metabol 78:790-794.
135. Reynolds P, Powlesland R, Keen T, Inglehearn C, Cunningham A, Green E, Brown K. 1996. Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities. Genes Chromosomes Cancer 17:151-155.
136. Riccardi V, Sujansky E, Smith A, Francke U. 1978. Chromosomal imbalance in the aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics 61:604-610.
137. Rivera H, Ruiz C, Garcia-Cruz D, Rolon A, Arroyo Y, Cantu J. 1985. Constitutional mosaic t(2;7)(q33;p22) and other rearrangements in a girl with Wilms' tumor. Ann Genet 28:52-54.
138. Sabbioni S, Barbanti-Brodano G, Croce C, Negrini M. 1997. GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. Cancer Res 57:4493-4497.
139. Sandoval C, Stringel G, Ozkaynak M, Tugal O, Jayabose S. 1998. Isochromosome 7q and Wilms tumor. Cancer Genet Cytogenet 104:61-65.
140. Sawyer J, Winkel E, Redman J, Roloson G. 1993. Translocation (7;7)(p13;q21) in a Wilms' tumor. Cancer Genet Cytogenet 69: 57-59.
141. Schneider N, Cooley L, Finegold M, Douglass K, Tomlinson G. 1997. The first recurring chromosome translocation in hepatoblastoma: der(4)t(1;4)(q12;q34). Genes Chromosomes Cancer 19:291-294.
142. Schroeder W, Chao L, Dao D, Strong L, Pathak S, Riccardi V, Lewis W, Saunders C. 1987. Nonrandom loss of maternal chromosome 11 alleles in Wilms' tumors. Am J Hum Genet 40:413-420.
143. Scott J, Cowell J, Robertson E, Priestley L, Wadey R, Hopkins B, Pritchard J, Bell G, Rall L, Graham C, Knott T. 1985. Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues. Nature 317:260-262.
144. Scrable H, Cavenee W, Ghavimi F, Lovell M, Morgan K, Sapienza C. 1989. A model for embryonal rhabdomyosarcoma tumorigenesis that involves genomic imprinting. Proc Natl Acad Sci USA 86:7480-7484.
145. Shapiro D, Sublett J, Li B, Downing J, Naeve C. 1993. Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. Cancer Res 53:5108-5112.
146. Slatter R, Elliott M, Welham K, Carrera M, Schofield P, Barton D, Maher E. 1994. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 31:749-753.
147. Slavotinek A, Gaunt L, Donnai D. 1997. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J Med Genet 34:819-826.
148. Sreekantaiah C, Ladanyi M, Rodriguez E, Chaganti R. 1994. Chromosomal aberrations in soft tissue tumors: relevance to diagnosis, classification, and molecular mechanisms. Am J Pathol 144:1121-1134.
149. Srivastava S, Zou Z, Pirollo K, Blattner W, Chang E. 1990. Germline transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348:747-749.
150. Steenman M, Rainier S, Dobry C, Grundy P, Horon I, Feinberg A. 1994. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nat Genet 7:433-439.
151. Steenman M, Redeker E, de Meulemeester M, Wiesmeijer K, Voute P, Westerveld A, Slater R, Mannens M. 1997. Comparative genomic hybridisation analysis of Wilms tumors. Cytogenet Cell Genet 77:296-303.
152. Steenman M, Tomlinson G, Westerveld A, Mannens M. 1999. Comparative genomic hybridization analysis of hepatoblastomas: additional evidence for a genetic link with Wilms tumor and rhabdomyosarcoma. Cytogenct Cell Genet 86:157-161.
153. Sublett J, Jeon I, Shapiro D. 1995. The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator. Oncogene 11:545-552.
154. Swans S, Wisecarver J, Bridge J. 1996. Significance of extra copies of chromosome 20 and the long arm of chromosome 2 in hepatoblastonia. Cancer Genet Cytogenet 91:65-67.
155. Thorburn M, Wright E, McKer C, McNiel-Smith-Read E. 1970. Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. Am J Dis Child 119:316-321.
156. Trent J, Casper J, Meltzer P, Thompson F, Fogh J. 1985. Nonrandom chromosome alterations in rhabdomyosarcoma. Cancer Genet Cytogenet 16:189-197.
157. Tsunematsu Y, Watanabe S, Oka T, Tsukamoto T, Kawa-Ha K, Hirata Y, Yamanaka H, Ohira M, Ono M. 1991. Familial aggregation of cancer from proband cases with childhood adrenal cortical carcinoma. Jap J Cancer Res 82:893-900.
158. van Heyningen V, Boyd P, Seawright A, Fletcher J, Fantes J, Buckton K, Spowart G, Porteous D, Hill R, Newton M, Hastie N. 1985. Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. Proc Natl Acad Sci USA 82:8592-8596.
159. Varanasi R, Bardeesy N, Ghahremani M, Petruzzi M, Nowak N, Adam M, Grundy P, Shows T, Pelletier J. 1994. Fine structure analysis of the WT1 gene in sporadic Wilms tumors. Proc Natl Acad Sci USA 91:3554-3558.
160. Visser M, Sijmons C, Bras J, Arecci R, Godfried M, Valentijn L, Voute P, Baas F. 1997. Allelotype of pediatric rhabdomyosarcoma. Oncogene 15:1309-1314.
161. Waber P, Chen J, Nisen P. 1993. Infrequcncy of ras, p53, WT1, or RB gene alterations in Wilms tumors. Cancer 72:3732-3738.
162. Wang Q, Curran M, Splawski I, Burn T, Millholland J, YanRaay T, Shen J, Timothy K, Vincent G, de Jager T, Schwartz P, Toubin J, Moss A, Atkinson D, Landes G, Connors T, Keating M. 1996. Positional cloning of a novel potassium channel gene: KCNQ1 mutations cause cardiac arrhythmias. Nat Genet 12:17-23.
163. Wang-Wuu S, Soukup S, Ballard E, Gotwals B, Lampkin B. 1988. Chromosomal analysis of sixteen human rhabdomyosarcomas. Cancer Res 48:983-987.
164. Wang-Wuu S, Soukup S, Bove K, Gotwals B, Lampkin B. 1990. Chromosome analysis of 31 Wilms' tumors. Cancer Res 50:2786-2793.
165. Weber-Hall S, Anderson J, McManus A, Abe S, Nojima T, Pinkerton R, Pritchard-Jones K, Shipley J. 1996. Gains, losses, and amplification of genomic material in rhabdomyosarcoma analyzed by comparative genomic hybridization. Cancer Res 56:3220-3224.
166. Weksberg R, Squire J. 1996. Molecular biology of Beckwith-Wiedemann syndrome. Med Pediatr Oncol 27:462-469.
167. Weksberg R, Shen D, Fei Y, Song Q, Squire J. 1993. Disruption of insulin-like growth factor 2 imprinting in Beckwich-Wiedemann syndrome. Nat Genet 5:143-150.
168. Wiedemann H. 1964. Complexe malformatif familial avec hernie ombilicale et macroglossie, un "syndrome nouveau." J Genet Hum 13:223-232.
169. Wiedemann H. 1983. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 141:129
170. Williams J, Brown K, Mott M, Maitland N. 1989. Maternal allele loss in Wilms' tumour. Lancet 1:283-284.
171. Wilmore H, White G, Howell R, Brown K. 1994. Germline and somatic abnormalities of chromosome 7 in Wilms' tumor. Cancer Genet Cytogenet 77:93-98.
172. Yang W, Levesque P, Little W, Condor M, Shalahy F, Blanar M. 1997. KCNQ1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc Natl Acad Sci USA 94:4017-4021.
173. Yano T, Linehan M, Anglard P, Lerman M, Daniel L, Stein C, Robertson C, LaRocca R, Zbar B. 1989. Genetic changes in human adrenocortical carcinomas. J Natl Cancer Inst 81:518-523.
174. Yun K. 1992. A new marker for rhabdomyosarcoma: insulin-like growth factor II. Lab Invest 67:653-664.
175. Zhan S, Shapiro D, Helman L. 1994. Activation of an imprinted allele of
176. KIP2 indicates a role in Beckwith-Wiedemann syndrome. Nature 387:151-158.
177. Zhang Y, Tycko B. 1992. Monoallelic expression of the human H19 gene. Nat Genet 1:40-44.