Handbook of Immunohistochemistry and in situ Hybridization of Human Carcinomas (eBook)

Front Cover 1
Genetic Recombination in Cancer 4
Copyright Page 5
Contents 6
Preface 10
Abbreviations 12
Chapter 1. Introduction 16
Chapter 2. Genetic integrity, DNA repair and recombination 18
Base excision and nucleotide excision repair system 20
RAD genes and their operation in DNA replication checkpoint 20
DNA recombination repair pathway 23
VDJ recombination, the immune system and haematological malignancy 24
SET domain proteins in genetic transcription, growth regulation and myeloma 27
Ku protein in cell function 30
Chapter 3. Replication error (RER) and genetic instability 39
Microsatellite instability and cancer progression 40
Effects of microsatellite instability on p53 and growth factor gene expression 43
Influence of microsatellite instability on invasive behaviour of tumours 46
Microsatellite instability and metastasis suppressor nm23 gene abnormalities 48
Chromosomal fragile sites and the RER phenotype 49
Sister chromatid recombination and fragile sites 50
Microsatellite instability and sister chromatid recombination 54
Genomic stability and chromosome structural dynamics 54
Chapter 4. DNA repeats, genetic recombination and the pathogenesis of genetic disorders 56
CAG repeat expansion and genetic instability 57
Microsatellite dinucleotide repeats in insulin-dependent diabetes mellitus and autoimmune thyroid disease 64
Alu repeats in genetic recombination 65
LINE repeats in genetic rearrangement 77
Cognate elements associated with recombination 79
Chapter 5. Chromosomal recombination in cancer 82
Karyotypic abnormalities in cancer 82
DNA aneuploidy and cancer progression 83
DNA ploidy, cell proliferation and growth factor expression 85
Association of DNA ploidy with p53 abnormalities 90
Chapter 6. Chromosomal translocation and its phenotypic effects 91
Chromosomal translocation and signal transduction 91
Chromosomal translocation and the dynamics of cell population expansion in cancer 104
The PI-3 kinase/Akt pathway of signal transduction in cell proliferation, apoptosis and differentiation 111
Chromosomal translocation and genetic transcription 119
Chromosomal translocation, fusion proteins and tumour vascularisation 132
Chromosomal translocations, fusion proteins and immunity 134
The association of chromosomal translocation with fragile sites 135
Chromosomal fragility, genetic loss and tumour suppressor genes 136
Gene amplification and its relationship to genetic instability 141
Chromosomal fragility and micronuclei 143
Chapter 7. DNA methylation and genetic instability 148
DNA methylation in normal and neoplastic development 148
Abnormal DNA methylation in ICF and Rett syndromes 149
DNA methylation and genetic instability 150
The CpG Island Methylator Phenotype (CIMP) 151
Influence of DNA methylation on recombination 154
Methylation-associated chromosomal recombination and genetic transcription in childhood leukaemias 155
The dynamics of histone acetylation in cell differentiation, cell proliferation and neoplasia 155
The effects of p53 methylation on chromosome stability 164
DNA methylation in fragile X syndrome 166
Chapter 8. Telomeric DNA and genetic instability 169
Telomeres and cell proliferation, apoptosis and cell senescence 169
Telomeres in DNA repair 173
Telomere function and ATM kinase 173
Telomeric association 174
The incidence of telomeric association in cancer 174
Telomeric association and gene expression 176
Telomere position effect 177
Epilogue 179
References 185
Index 252