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D, van der Kwast TH, Zwarthoff BC (1994a) Constitutional DNA-level aberrations in chromosome 22 in a patient with multiple meningiomas. Genes Chrom Cancer 9: 124-128. Lekanne Deprez RH, Bianchi AB, Groen NA, Seizinger BR, Hagemeijer A, van Drunen E, Bootsma D, Koper JW, Avezaat CJJ, Kley N, Zwarthoff BC (1994b) Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas. Am J Hum Genet 54:1022-1029. Maltby EL, Ironside JW, Battersby RDE (1988) Cytogenetic studies in 50 meningiomas. Cancer Genet Cytogenet 31: 199-210. McDemlid HE, Budarf ML, Emanuel BS (1993) Long-range restriction map of human chromosome 22qll- 22q12 between the lambda immunoglobulin locus and the Ewing Sarcoma breakpoint. Genomics 18:308-318. McDowell JR (1990) Familial meningioma. Neurology 40:312-314. Newsham I, Daub D, Desnard-Guerin C, Cavenee W (1994) Molecular sublocalization and characterization of the 1l;22 translocation breakpoint in a malignant rhahdoid tumor. Genomics 19:433-440. Okamoto M, Sasaki M, Sugio K, Sato C, Iwama T, Ikeuchi T, Tonomura A et al. (1988) Loss of constitutional heterozygosity in colon carcinoma from patients wilh familial polyposis coli. Nature 331:273-277. Pulst SM, Rouleau GA, Marineau C, Fain P, Sieb JP (1993) Familial meningiomas is not allelic to neurofibromatosis 2. Neurol 43:2096-2098. Pykett MJ, Murphy M, Hamish PR, George DL (1994) The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts. Hum Mol Genet 3:559-564. Rey JA, Bello MJ; de Campos JM, Vaquero J, Kusak ME, Sarasa JL, Pestana A (1993) Abnornlalilies of chromosome 22 in human brain tumors determined by combined cytogenetic and molecular genetic approaches. Cancer Genet Cytogenet 66:1-10. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel n, Pulst SM, Lenoir G, Bijlsma E, Fashold R, Dumanski J, de Jong P, Parry D, Eldrige R, Aurias A, Delattre J, Thomas G 1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363:515-521. Russell DS, Rubinstein U (1989) Tumours of the meninges ami related tissues. In Arnold E (ed): Pathology of tumours of the nervous system, 51b ed. London: Edward Arnold. pp 452-453. Rutlledge MH, Sarrazin J, Rangaratnam S, Phelan CM, Twist E, Merel P, Delatlre 0, Thomas G, NordenskjOid M, Collins VP, Dumanski JP, Rouleau GA (1994) Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nature Genet 6: 180-184. Sainz J, Huynh OP, Figueroa K, Ragge NK, Baser ME, Pulst SM (1994) Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 3:885-891. Seizinger DR, Marluza RL, Gusella JF (1986) Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322:644-647. Seizinger BR, de la Monte S, Atkins L, Gusella JF, Martuza RL (1987) Molecular genetic approach to human meningioma: Loss of genes on chromosome 22. Proc Natl Acad Sci USA 84:5419-5423. Sieb JP, Pulst SM, Buch A (1992) Familial CNS tumors. J Neurol 239:343-344. Solomon E, Borrow J, Goddard AD (1991) Chromosome aberrations and cancer. Science 254: 1153-1160. 140
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GENES ON CHROMOSOME 22 INVOLVED IN
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PROMOTmCOMMIssm Promotor: Prof. Dr.
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Contents List of abbreviations 9 Ch
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List of abbreviations APC bp DCC FA
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1 Cancer is a genetic disease It is
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transformation came from somatic ce
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to tumorigenesis if a mutation inac
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is that this interaction inactivate
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endogenous wt p53 by forming mixed
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Recent studies in these families ha
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In about 15% of all colon tumors an
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e explained by assuming that the nu
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3.6 The NFl gene Neurofibromatosis
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4 MENINGIOMA 4.1 Cells of origin In
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fossa and foramen magnum), convexit
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early cell cultures the presence of
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gene (Dumanski et aI., NNFF consort
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et aI., 1991b; Larsson et aI., 1990
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6 References Aaltonen LA, Peltomiik
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(1988) SV40 large tumor antigen for
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Haber DA, Buckler AJ, Glaser T, Cal
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carcinomas. Genes Chrom Cancer 2:19
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Pelletier J, Breunin~ W, Kashtan CE
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Stratton MR, Darling J, Lantos PL,
Page 53:
Chapter II Isolatioll alld characte
Page 56 and 57:
SHORT COMMUNICATION TABLE 1 Charact
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Appendix A lIew polymorphic probe 0
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Nudeic Acids Research, Vol. 19, No.
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Chapter III Cytogenetic, molecular
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Introduction Meningiomas are consid
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defined by evaluating 6 histologica
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number of clonal chromosomal abnorm
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#22 status No. Sex/Age (yr) Site of
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#22 slattls No. SexiAge (yr) Site o
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#22 status No. Sex/Age (yr) Site of
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Table 2. Comparison of FISH, cytoge
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No. Days in Karyotypes andlor clona
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No. Days in Karyotypes and/or clona
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to map both breakpoints (data not s
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Statistical analyses concerning age
Page 90 and 91: Tuble 4. Frequency tables between d
Page 92 and 93: from adult patients, indicating tha
Page 94 and 95: Acknowledgements This study was sup
Page 96 and 97: McDermid HE, Duncan AMV, Higgins MJ
Page 99 and 100: Chapter IV Familial anaplastic epen
Page 101 and 102: Familial anaplastic ependymoma: evi
Page 103 and 104: PATIENT A, born 1977, presented at
Page 105 and 106: Microscopic examination (patients A
Page 107 and 108: (Lekanne Deprez et aI., 1994). Tabl
Page 109 and 110: Chapter V A t(4;22) ill a meningiom
Page 111 and 112: Am. J. HI/m. Genet. 48:783-790, 199
Page 113 and 114: Putative Tumor-suppressor Gene in M
Page 119 and 120: Chapter VI Molecular clolling of a
Page 121 and 122: Molecular Cloning of a Gene Disrupt
Page 123 and 124: to playa role in the development of
Page 125 and 126: total sheared human genomic DNA bef
Page 127 and 128: Genomic cosmid contig spanning the
Page 129 and 130: probe A is conserved in hamster DNA
Page 131 and 132: Southerll, 1l0l1hern blots and evol
Page 133 and 134: The evolutionary conservation of th
Page 135 and 136: A " l ... aGAP~RAGC EPOV~SR~AGQGE ;
Page 137 and 138: postulates that the first AUG codon
Page 139: Bijlsma EK, Brouwer~Mladin R, Bosch
Page 143 and 144: Chapter VII Constitutional DNA-leve
Page 145 and 146: GENES, CHROMOSOMES & CANCER 9;124-1
Page 147 and 148: LfKANNf DfPREZ fT AL TABLE I. Cytog
Page 149 and 150: LEKANNE DEPRF2 ET AL could be that
Page 151 and 152: Chapter VIII Frequent NF2 gene tran
Page 153 and 154: Am.'. HIIIII. Gellet. 54:1022-1029,
Page 155 and 156: Lekanne Deprez ct al. Table I Oligo
Page 157 and 158: Table 2 Nfl Gene-Transcript Mutatio
Page 159 and 160: Lebnne Deprez et lli. observed at a
Page 161 and 162: Summary and Discussion Meningioma i
Page 163 and 164: translocation (Chapter V). These hy
Page 165 and 166: were derived from patients with mor
Page 167 and 168: Samenvatting Meningeomen zUn goedaa
Page 169 and 170: het gebied rondom het MNI gen te be
Page 171 and 172: Curriculum vitae 30 juni 1965 gebor
Page 173 and 174: List of publications I) van 't Veer
Page 175 and 176: Nawoord Dit boekje is 101 sland gek
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