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Contents List of abbreviations 9 Chapter I Gene1'31 introduction 11 I Cancer is a genetic disease 13 2 Oncogenes and tumor suppressor genes 14 2.1 Oncogenes 14 2.2 Tumor suppressor genes 14 3 Molecular cloning and function of tumor suppressor genes 18 3.1 The Retinoblastoma (RbI) gene 18 3.2 Thep53 gene 19 3.3 The isolation of APC, MCC, DCC, hMSH2, and hMLHl and their putative role in colorectal tumorigenesis 22 3.4 The isolation of the wn and VHL genes 25 3.5 The RET proto-oncogene 27 3.6 The NFl gene 29 3.7 The NF2 gene 29 4 MENINGIOMA 4.1 Cells of origin 31 4.2 Frequency, incidence and occurrence 31 4.3 Anatomic localization 32 4.4 Histopathology 33 4.5 Etiology 34 4.6 Cytogenetic and molecular genetic studies of meningiomas 35 4.7 Other tumors with loss or rearrangements of chromosome 22 38 4.8 Chromosome 22 39 5 Scope of the thesis 40 6 References 41 6
Chapter II Isolation and characterization of 2S unique DNA mal'l~ers for human chl'omosome 22 53 Appendix 59 Chapter III Cytogenetic, molecular genetic and pathological analyses in 126 meningiomas 65 Chapter IV Familial anaplastic ependymoma: evidence of loss of chromosome 22 in tumor cells 99 Chapter V A t(4;22) in a meningioma points to the localization of a putative tumor suppressor gene 109 Chapter VI Molecular cloning of a gene disrupted by a balauced translocation in a meningioma 119 Chapter VII Constitutional DNA-level alterations in chromosome 22 in a patient with multiple meningiomas 143 Chapter VIII Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas 151 Discussion and sununary 161 Samenvatting 167 Curl'iculum vitae 171 List of publications 173 Nawool'd 175 7
Page 1: GENES ON CHROMOSOME 22 INVOLVED IN
Page 4 and 5: PROMOTmCOMMIssm Promotor: Prof. Dr.
Page 9: List of abbreviations APC bp DCC FA
Page 13 and 14: 1 Cancer is a genetic disease It is
Page 15 and 16: transformation came from somatic ce
Page 17 and 18: to tumorigenesis if a mutation inac
Page 19 and 20: is that this interaction inactivate
Page 21 and 22: endogenous wt p53 by forming mixed
Page 23 and 24: Recent studies in these families ha
Page 25 and 26: In about 15% of all colon tumors an
Page 27 and 28: e explained by assuming that the nu
Page 29 and 30: 3.6 The NFl gene Neurofibromatosis
Page 31 and 32: 4 MENINGIOMA 4.1 Cells of origin In
Page 33 and 34: fossa and foramen magnum), convexit
Page 35 and 36: early cell cultures the presence of
Page 37 and 38: gene (Dumanski et aI., NNFF consort
Page 39 and 40: et aI., 1991b; Larsson et aI., 1990
Page 41 and 42: 6 References Aaltonen LA, Peltomiik
Page 43 and 44: (1988) SV40 large tumor antigen for
Page 45 and 46: Haber DA, Buckler AJ, Glaser T, Cal
Page 47 and 48: carcinomas. Genes Chrom Cancer 2:19
Page 49 and 50: Pelletier J, Breunin~ W, Kashtan CE
Page 51 and 52: Stratton MR, Darling J, Lantos PL,
Page 53: Chapter II Isolatioll alld characte
Page 56 and 57:
SHORT COMMUNICATION TABLE 1 Charact
Page 59:
Appendix A lIew polymorphic probe 0
Page 62 and 63:
Nudeic Acids Research, Vol. 19, No.
Page 65:
Chapter III Cytogenetic, molecular
Page 68 and 69:
Introduction Meningiomas are consid
Page 70 and 71:
defined by evaluating 6 histologica
Page 72 and 73:
number of clonal chromosomal abnorm
Page 74 and 75:
#22 status No. Sex/Age (yr) Site of
Page 76 and 77:
#22 slattls No. SexiAge (yr) Site o
Page 78 and 79:
#22 status No. Sex/Age (yr) Site of
Page 80 and 81:
Table 2. Comparison of FISH, cytoge
Page 82 and 83:
No. Days in Karyotypes andlor clona
Page 84 and 85:
No. Days in Karyotypes and/or clona
Page 86 and 87:
to map both breakpoints (data not s
Page 88 and 89:
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 115 and 116:
Page 117 and 118:
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 and 140:
Bijlsma EK, Brouwer~Mladin R, Bosch
Page 141 and 142:
Tanaka N, Nishisho I, Yamamoto 1'.1
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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