Genes and Environment in Cancer PDF
Preview Genes and Environment in Cancer
Recent Results 154 in Cancer Research Managing Editors P. M. Schlag, Berlin· H.-J. Senn, St. Gallen Associate Editors V. Diehl, Cologne . D.M. Parkin, Lyon M.F. Rajewsky, Essen . R. Rubens, London M. Wannenmacher, Heidelberg Founding Editor P. Rentchnik, Geneva Springer Berlin Heidelberg New York Barcelona Budapest Hong Kong London Milan Paris Singapore Tokyo M. Schwab H. Rabes K. Munk P. H. Hofschneider (Eds.) Genes and Environment in Cancer With 58 Figures and 60 Tables Springer Prof Dr. rer. nat. Manfred Schwab Deutsches Krebsforschungszentrum Abteilung Zytogenetik 1m Neuenheimer Feld 280 D-69120 Heidelberg e-mail: [email protected] Prof Dr. med. Hartmut M. Rabes Pathologisches Institut der UniversiHit Munchen Thalkirchner StraBe 36 D-80377 Munchen e-mail: [email protected] Prof Dr. med. Klaus Munk Deutsches Krebsforschungszentrum 1m Neuenheimer Feld 280 D-69120 Heidelberg Prof Dr. med. Hans Peter Hofschneider Max-Planck-lnstitut fur Biochemie Am Klopferspitz 18a D-82152 Martinsried e-mail: [email protected] ISBN-13: 978-3-642-46872-8 e-ISBN-13: 978-3-642-46870-4 DOl: 10.1007/978-3-642-46870-4 lSSN 0080-0015 Library of Congress Cataloging-in-Publication Data Genes and environment in cancer 1 M. Schwab ... [et a1.] (eds.). p. cm. - (Recent results in cancer research; 154). Based on an international expert meeting held from Nov. 16 to 19, 1997 in Bonn, Germany. Includes bibliographical references and index. ISBN-13: 978-3-642-46872-81. Carcinogenesis-Congresses. 2. Cancer-Genetic aspects-Con gresses. 3. Cancer-Environmental aspects-Congresses. I. Schwab, M. (Manfred), 1945- . II. Series. [DNLM: 1. Neoplasms-genetics congresses. 2. Neoplasms-epidemiology congresses. 3. Environmental Exposure-adverse effects congresses. 4. Risk Assessment congresses. [WI RE106P v. 154 1998QZ 200 G327 1998] RC261.R35 vo1. 154 [RC268.48] 616.99'4 s-dc21 [616.99'4071] DNLM/DLC for Library of Congress This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illus trations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Viola tions are liable for prosecution under the German Copyright Law. © Springer-Verlag Berlin· Heidelberg 1998 Softcover reprint of the hardcover 1st edition 1998 The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publisher cannot guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature. Production: PRO EDIT GmbH, D-69126 Heidelberg Typesetting: K+V Fotosatz GmbH, D-64743 Beerfelden SPIN 10676489 19/3133-5 4 3 2 1 0 - Printed on acid-free paper Preface The XIth International Expert Meeting of the Dr. Mildred Scheel Foundation for Cancer Research was held in Bonn, Germany, on 16-17 November 1997. Thirty-two invited speakers from 10 countries, together with 80 additional participants, discussed the topic "Genes and Environment in Cancer", a field of research that has developed rapidly in recent years. The homeostatic balance of an organism is the result of a deli cate network of interactions between genes and environment. This balance may be suspended if genes are structurally or func tionally aberrant, either due to an endogenous genetic condition or to external genotropic influences. The historical hypothesis "Cancer is a genetic disease" has convincingly been supported by a wealth of recent information. On the one hand, a hereditary genetic condition may predispose to cancer development, as evident from pedigree studies and molecular genetic analyses. Various genes have been found to be related to an individual hereditary cancer predisposition, for ex ample, hereditary TP53 or RBi defects in several types of familial cancer, loss of mismatch repair genes in hereditary nonpolyposis colon cancer (HNPCC), BRCA-l or -2 germline mutations in a subgroup of breast carcinomas, or a well-defined mutation spec trum in tumors of multiple endocrine neoplasia syndromes. On the other hand, identical, similar and many other genetic aberra tions may arise spontaneously or can be induced by endogenous factors formed during pathological and even physiological pro cesses and also as a result of interaction with external environ mental factors. When Percival Pott described scrotal cancer of chimney-sweeps in England 200 years ago, he opened up the search for an ever-increasing number of cancer risk factors in our environment. The list of putative or confirmed human car cinogenic factors is long and far from complete. Among them, most chemical carcinogens have to be metabolically converted into short-living, highly reactive electrophiles which form DNA VI Preface adducts. Recently observed polymorphisms of both activating and detoxifying enzymes contribute to individual cancer predis position after carcinogen exposure. Determination of promutagenic DNA adducts in surrogate cells may help to evaluate the personal cancer risk. However, the persistence and biological effects of promutagenic DNA adducts or structural changes that are induced by chemical carcinogens or physical carcinogenic factors, ionizing radiation and UV in particular, may be influenced by DNA repair. The individual's ge netically predetermined or adaptive DNA repair capacity is criti cal to the probability of cancer development. In patients suffering from hereditary or acquired DNA repair disorders, the risk of cancer is increased. The final result of interaction with a carcino genic factor appears to also be dependent on the particular con ditions of the genomic target. Genome instability or chromoso mal fragile sites are important determinants at the genomic level. In recent years, molecular epidemiology has become a most effective tool in bridging the gap between a typical genetic lesion (be it a mutation hotspot or a specific form of mutation), a puta tively involved class of physical or chemical carcinogen and the actual cancer incidence. Although early enthusiasm for the hy pothesis "Carcinogens leave fingerprints;' a very attractive term indeed, has quieted down, the information obtained by combin ing molecular and population genetics, biochemistry and classi cal epidemiology is of utmost importance for elucidating rela tionships between risk factors and actual human cancer inci dence. Molecular epidemiology may provide insights into mecha nisms of initiation and progression of human cancer and may have a considerable impact on cancer prevention. Despite sophisticated analyses of genetic aberrations and the effects of carcinogenic factors, it should not be overlooked that the mysteries of the latency period between the initiating event at the start of the carcinogenic process and the clinical manifes tation of a malignant tumor have not yet been unravelled. Re search on the role of genetic and environmental factors that modify the susceptibility to spontaneous and hereditary carcino genesis is a very important issue. Last, but not least, environmental exposure to viruses may serve as a paradigm of the contribution of transmissible carcino genic factors to the development of human cancer. The pathway from epidemiological facts to the elucidation of molecular mech anisms and, further, to practical tumor prevention by appropriate vaccination illustrates a promising and successful line of cancer research for which hepatitis B virus is prototypic. The idea of the XIth International Expert Meeting was to bring together recognized scientists who are familiar with the Preface VII multifaceted interplay between genes and environment in cancer. Recent achievements and promising trends in different disciplines of cancer research are presented in this volume. Apart from the pure heuristic value, we hope that advances in the assessment of cancer risk and the involved hereditary, genetic and environmental parameters, as reported here, will improve the chances for devel oping new strategies for cancer detection and prevention. H. M. Rabes, Chairman, Scientific Committee, Dr. Mildred Scheel Foundation for Cancer Research Contents I. Key Notes Epidemiological Evidence of the Effects of Behaviour and the Environment on the Risk of Human Cancer . . . . . . . . . . . 2 R. Doll Molecular Epidemiology of Human Cancer 22 S. P. Hussain and C. C. Harris II. Risk Assessment and DNA Lesions Molecular Epidemiology of Environmental Carcinogenesis 39 F.P. Perera Polymorphisms of N-Acetyltransferases, Glutathione S-Transferases, Microsomal Epoxide Hydrolase and Sulfotransferases: Influence on Cancer Susceptibility ............................... 47 J. G. Hengstler, M. Arand, M. E. Herrero, and F. Oesch Impact of Adduct Determination on the Assessment of Cancer Susceptibility . . . • . . . . . . . . . . . . . . . . . . . . . . . . .• 86 H. Bartsch, M. Rojas, K. Alexandrov, and A. Risch Mutation Spectra Resulting from Carcinogenic Exposure: From Model Systems to Cancer-Related Genes .....•.......• 97 E. Dogliotti, P. Hainaut, T. Hernandez, M. D'Errico, and D. M. DeMarini III. DNA Repair and Genetic Susceptibility Relevance of DNA Repair to Carcinogenesis and Cancer Therapy . .• 127 M. F. Rajewsky, J. Engelbergs, J. Thomale, and T. Schweer X Contents Molecular Basis of DNA Repair Mechanisms and Syndromes 147 G. Weeda, J. de Boer, I. Danker, J. de Wit, S. B. Winkler, G. T. J. van der Horst, W Vermeulen, D. Bootsma, and J.H.J. Hoeijmakers The Ataxia Telangiectasia Gene in Familial and Sporadic Cancer ... 156 M. A. R. Yuille and L. J. A. Coignet IV. Induced Chromosome Damage and Cancer Cancer Predictive Value of Cytogenetic Markers Used in Occupational Health Surveillance Programs .............. , 177 L. Hagmar, S. Bonassi, U. Stromberg, z. Mikoczy, C. Lando, I.-L. Hansteen, A. H. Montagud, L. Knudsen, H. Norppa, C. Reuterwall, H. Tinnerberg et al. Instability at Chromosomal Fragile Sites . . . . . . . . . . . . . . . . . .. 185 T. W Glover The Role of Deletions at the FRA3B/FHIT Locus in Carcinogenesis 200 K. Huebner, T. Druck, Z. Siprashvili, C. M. Croce, A. Kovatich, and P. A. McCue Gene Amplification Mechanisms: The Role of Fragile Sites . . . . . .. 216 M. Debatisse, A. Coquelle, F. Toledo, and G. Buttin V. Genetic Susceptibility and Environmental Exposure: 'The RET Paradigm' Mechanisms of Development of Multiple Endocrine Neoplasia Type 2 and Hirschsprung's Disease by ret Mutations . . . . . . . . . . . . . . .. 229 M. Takahashi, N. Asai, T. [washita, H. Murakami, and S. Ito Rearrangements of RET and NTRKl Tyrosine Kinase Receptors in Papillary Thyroid Carcinomas. . . . . . . . . . . . . . . . . . . . . . . .. 237 M. A. Pierotti, P. Vigneri, and I. Bongarzone Molecular Genetics of Childhood Papillary Thyroid Carcinomas After Irradiation: High Prevalence of RET Rearrangement. . . . . . .. 248 H. M. Rabes and S. Klugbauer Thyroid Carcinomas In RET/PTC Transgenic Mice ............. 265 S. M. Jhiang, J.-Y. Cho, T. L. Furminger, J. E. Sagartz, Q. Tong, C. C. Capen, and E. L. MazzaJerri Signal Transduction by the Receptor Tyrosine Kinase Ret. . . . . . .. 271 D.H.J. van Weering and J.L. Bas Contents XI VI. Population Genetics of Cancer Susceptibility Complex Traits on the Map . . . . . . . . . . . . . . . . . . . . . . . . . . .. 285 ]. Ott and P. Lucek Genetic Mapping of Cancer Susceptibility/Resistance loci in the Mouse •...............•.................... 292 G. Manenti, L. De Gregorio, M. Garibaldi, F. S. Falvella, N. Zanesi, M.A. Pierotti, and T.A. Dragani Cancer Epidemiology in Migrant Populations. . . . . . . . . . . . . . . .. 298 M. McCredie Molecular Epidemiology of Hereditary Nonpolyposis Colorectal Cancer in Finland .......•............................... 306 L. A. Aaltonen VII. Virus and Cancer: The HBVlHCV Paradigm The PreS2 Activators of the Hepatitis B Virus: Activators of Tumour Promotor Pathways ................................. 315 E. Hildt and P. H. Hofschneider Antiviral Cell-Mediated Immune Responses During Hepatitis B and Hepatitis C Virus Infections ......................... 330 C. Ferrari, A. Penna, A. Bertoletti, A. Cavalli, G. Missale, V. Lamonaca, C. Boni, A. Valli, R. Bertoni, S. Urbani, P. Scognamiglio, and F. Fiaccadori The Role of Hepatitis C Virus in Hepatocellular Carcinoma • . . . . • .. 337 M. Colombo Overview of Viruses, Cancer, and Vaccines in Concept and in Reality. 345 M. Hilleman Subject Index .................................... 363
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