Genome Instability in Cancer Development

509 Pages·2005·7.11 MB·English

by  Ranga N. Venkatesan, Lawrence A. Loeb (auth.), Irun R. Cohen, Abel Lajtha

GENOME
INSTABILITY
IN CANCER
DEVELOPMENT
Edited by
Erich A. Nigg
Image (kindly provided by Dr. M. Speicher): Metaphase spread of small cell lung cancer cell line H187
after M FISH hybridization. The metaphase spread is hyper diploid and has 53 chromosomes. Numerous
structural aberrations, such as translocations, insertions and deletions are visible (see a lso Chapter 1.2).
ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY
Editorial Board:
NATHAN BACK, State University of New York at Buffalo
IRUN R. COHEN, The Weizmann Institute of Science
DAVID KRITCHEVSKY, Wistar Institute
ABEL LAJTHA, N. S. Kline Institute for Psychiatric Research
RODOLFO PAOLETTI, University of Milan
Recent Volumes in this Series
Volume 491
THE MOLECULAR IMMUNOLOGY OF COMPLEX CARBOHYDRATES-2
Edited by Albert M. Wu
Volume 492
NUTRITION AND CANCER PREVENTION: New Insights into the Role of
Phytochemicals
Edited under the auspices of the American Institute for Cancer Research
Volume 493
NEUROIMMUNE CIRCUITS, DRUGS OF ABUSE, AND INFECTIOUS DISEASES
Edited by Herman Friedman, Thomas W. Klein, and John J. Madden
Volume 494
THE NIDOVIRUSES (CORONAVIRUSES AND ARTERIVIRUSES)
Edited by Ehud Lavi, Susan R. Weiss, and Susan T. Hingley
Volume 495
PROGRESS IN BASIC AND CLINICAL IMMUNOLOGY
Edited by Andrzej Mackjewicz, Maciej Kurpisz, and Jan Zeromski
Volume 496
NONINVASIVE ASSESSMENT OF TRABECULAR BONE ARCHITECTURE AND THE
COMPETENCE OF BONE
Edited by Sharmila Majumdar, Ph.D., and Brian K. Bay, Ph.D.
Volume 497
INTRACTABLE SEIZURES: Diagnosis, Treatment, and Prevention
Edited by W. McIntyre Burnham, Peter L. Carlen, and Paul A. Hwang
Volume 498
DIABETES AND CARDIOVASCULAR DISEASE: Etiology, Treatment, and Outcomes
Edited by Aubie Angel, Naranjan Dhalla, Grant Pierce, and Pawan Singal
Volume 499
FRONTIERS IN MODELING AND CONTROL OF BREATHING
Edited by Chi-Sang Poon and Homayoun Kazemi
Volume 500
BIOLOGICAL REACTIVE INTERMEDIATES VI: Chemical and Biological Mechanisms
of Susceptibility to and Prevention of Environmental Diseases
Edited by Patrick M. Dansette, Robert Snyder, Marcel Delaforge, G. Gordon Gibson,
Helmut Greim, David J. Jollow, Terrence J. Monks, and I. Glenn Sipes
A Continuation Order Plan is available for this series. A continuation order will bring delivery of each new volume
immediately upon publication. Volumes are billed only upon actual shipment. For further information please con-
tact the publisher.
GENOME INSTABILITY IN
CANCER DEVELOPMENT
Edited by
Erich A. Nigg
Max-Planck Institute of Biochemistry,
Martinsried, Germany
ISBN-10 1-4020-3763-5 (HB)
ISBN-13 978-1-4020-3763-4 (HB)
ISBN-10 1-4020-3764-3 (e-book)
ISBN-13 978-1-4020-3764-1 (e-book)
© 2005 Springer Science + Business Media, Inc.
All rights reserved. This work may not be translated or copied in whole or in part without the
written permission of the publisher (Springer Science + Business Media, Inc., 233 Spring
Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or
scholarly analysis. Use in connection with any form of information storage and retrieval,
electronic adaptation, computer software, or by similar or dissimilar methodology now known
or hereafter developed is forbidden.
The use in this publication of trade names, trademarks, service marks and similar terms, even
if they are not identified as such, is not to be taken as an expression of opinion as to whether
or not they are subject to proprietary rights.
Printed in the Netherlands.
9 8 7 6 5 4 3 2 1
springeronline.com
TABLE OF CONTENTS
Preface vi
List of Contributors ix
Part 1. The Problem of Genome Instability
1.1. The Multiplicity of Mutations in Human Cancers 3
Ranga N. Venkatesan and Lawrence A. Loeb
1.2. Monitoring Chromosome Rearrangements 19
Michael R. Speicher
Part 2. DNA Repair and Mutagenesis
2.1. Nucleotide Excision Repair and its Connection with
Cancer and Ageing 45
Jaan-Olle Andressoo, Jan H.J. Hoeijmakers and Harm de
Waard
2.2. DNA Mismatch Repair and Colon Cancer 85
Giancarlo Marra and Josef Jiricny
2.3. Base Excision Repair 125
Lisiane B. Meira, Nicholas E. Burgis and Leona D.
Samson
2.4. Genomic Instability in Cancer Development 175
Penny A. Jeggo
2.5. Translesion Synthesis and Error-Prone Polymerases 199
Catherine M. Green and Alan R. Lehmann
vi Table of Contents
Part 3. Cell Cycle Progression and Chromosome Aberration
3.1. The INK4A/ARF Network – Cell Cycle Checkpoint or
Emergency Brake? 227
Ana Gutierrez del Arroyo and Gordon Peters
3.2. DNA Replication and Genomic Instability 249
Wenge Zhu, Tarek Abbas and Anindya Dutta
3.3. The Dream of every Chromosome: Equal Segregation for
a Healthy Life of the Host 281
Tomohiro Matsumoto and Mitsuhiro Yanagida
3.4. Telomere Structural Dynamics in Genome Integrity
Control and Carcinogenesis 311
Roger A. Greenberg and K. Lenhard Rudolph
3.5. Gene Amplification Mechanisms 343
Michelle Debatisse and Bernard Malfoy
3.6. DNA Methylation and Cancer-Associated Genetic
Instability 363
Melanie Ehrlich
3.7. Deregulation of the Centrosome Cycle and the Origin of
Chromosomal Instability in Cancer 393
Wilma L. Lingle, Kara Lukaswiewicz and Jeffrey L.
Salisbury
Part 4. Genome Integrity Checkpoints
4.1. Mammalian DNA Damage Response Pathway 425
Zhenkun Lou and Junjie Chen
4.2. ATM and Cellular Response to DNA Damage 457
Martin F. Lavin, Sergei Kozlov, Nuri Gueven, Cheng
Peng, Geoff Birrell, Phillip Chen and Shaun Scott
4.3 Mitotic Checkpoint, Aneuploidy and Cancer 477
Tim J. Yen and Gary D. Kao
Index 501
PREFACE
Research over the past decades has firmly established the genetic basis of
cancer. In particular, studies on animal tumour viruses and chromosome
rearrangements in human tumours have concurred to identify so-called
‘proto-oncogenes’ and ‘tumour suppressor genes’, whose deregulation
promotes carcinogenesis. These important findings not only explain the
occurrence of certain hereditary tumours, but they also set the stage for the
development of anti-cancer drugs that specifically target activated
oncogenes. However, in spite of tremendous progress towards the
elucidation of key signalling pathways involved in carcinogenesis, most
cancers continue to elude currently available therapies. This stands as a
reminder that “cancer” is an extraordinarily complex disease: although
some cancers of the haematopoietic system show only a limited number of
characteristic chromosomal aberrations, most solid tumours display a
myriad of genetic changes and considerable genetic heterogeneity. This is
thought to reflect a trait commonly referred to as ‘genome instability’, so
that no two cancers are ever likely to display the exact same genetic
alterations.
Numerical and structural chromosome aberrations were recognised as a
hallmark of human tumours for more than a century. Yet, the causes and
consequences of these aberrations still remain to be fully understood. In
particular, the question of how genome instability impacts on the
development of human cancers continues to evoke intense debate. Is the
observed instability merely a consequence of advanced tumour growth or
does it constitute a prerequisite for the acquisition of an ever more
aggressive cancer cell phenotype? At what time in the evolution of a
tumour does genome instability arise and what are the implications of this
trait for the design of therapeutic approaches ? To answer these important
questions it will be indispensable to understand the mechanisms that give
rise to genome instability. This information will then hopefully provide
insight into the contribution of genome instability to cancer development
and its relevance to therapy.
viii Preface
Recent years have seen a surge of renewed interest in the role of
genome instability in cancer. Remarkable progress has been made towards
understanding genome instability at the nucleotide level. Specifically,
several hereditary cancer susceptibility syndromes have been linked to
genetic defects in DNA repair systems, notably nucleotide excision repair
(NER) and mismatch repair (MMR). Moreover, genetic connections have
also been established between aneuploidy (numerical chromosome
imbalances) and carcinogenesis. Taken together, these findings provide
strong support for the hypothesis that genome instability is an important
parameter in the aetiology and clinical behaviour of cancer. In expanding
cell populations, genome instability is expected to increase the probability
of acquiring critical mutations, notably the gain of activated oncogenes and
the loss of tumour suppressor genes. Genome instability is also expected to
favour the adaptation of incipient tumour cells to changing physiological
conditions during tumour progression. And, last but not least, genome
instability is likely to play an important role in the emergence of resistance
to therapy.
This book explores the molecular origins of genome instability and
discusses its impact on cancer development. It reviews both genetic and
biochemical research on the mechanisms that allow cancer cells to
accumulate critical mutations and thus evolve, through processes
reminiscent of Darwinian selection, an ever increasingly aggressive
behaviour. By bringing together authoritative reviews from experts in
widely different but complementary fields, the book is meant to stimulate
thought, discussion and experimentation. Hopefully, it will serve as a rich
source of information for a wide audience, including advanced students,
researchers and oncologists. My sincere thanks go to all authors for
contributing excellent and comprehensive chapters, to Dr. M. Speicher for
kindly providing the internal cover picture, to Ms Alison Dalfovo for expert
secretarial assistance, and to Dr. Cristina Alves dos Santos and her
colleagues at Springer Life Sciences for a very pleasant collaboration
throughout the preparation of this book.
Martinsried, Spring 2005 Erich A. Nigg
LIST OF CONTRIBUTORS
Tarek Abbas
Department of Biochemistry and Molecular Genetics
University of Virginia School of Medicine
Charlottesville, VA 22908
USA

Jaan-Olle Andressoo
MGC Department of Cell Biology and Genetics
Center for Biomedical Genetics
Erasmus Medical Center
3000 DR Rotterdam
The Netherlands
Geoff Birrell
The Queensland Institute of Medical Research
300 Herston Rd
Herston Qld 4029
Australia
Nicholas E. Burgis
Division of Biological Engineering
Massachusetts Institute of Technology
Room 56-235
77 Mass Avenue
Boston, MA 02139
USA