Lynch Syndrome-Associated Urological Malignancies
Lynch syndrome is a hereditary cancer syndrome caused by germline alterations in mismatch repair (MMR) genes. Recently, there is growing evidence of an increased risk of development of upper tract urothelial carcinomas (UTUC) in Lynch syndrome and in fact
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Lynch Syndrome
Naohiro Tomita Editor
Lynch Syndrome Molecular Mechanism and Current Clinical Practice
Editor Naohiro Tomita Specially Appointed Adviser Cancer Treatment Center Toyonaka Municipal Hospital Osaka Japan Professor Emeritus Division of Lower GI Surgery Department of Surgery Hyogo College of Medicine Hyogo Japan
ISBN 978-981-15-6890-9 ISBN 978-981-15-6891-6 (eBook) https://doi.org/10.1007/978-981-15-6891-6 © Springer Nature Singapore Pte Ltd. 2020 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, 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. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd. The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore
Preface
Lynch syndrome (LS) is one of the most common hereditary cancer syndromes, which has specific clinical features such as early-onset cancer, multiple colorectal cancer, and extra-colonic cancer occurrence in various organs, including the endometrium, stomach, small intestine, urinary tract, hepatobiliary tract, and ovaries. The history of LS commenced with a report published in 1913 by a dedicated pathologist Prof. Aldred S. Warthin at the University of Michigan, who had documented three families predisposed to multiple cancer involvement with suggestive autosomal dominant inheritance [1]. This syndrome was further investigated by Prof. Henry T. Lynch in 1966 [2], and the concept of “cancer family syndrome” gradually expanded worldwide. The molecular mechanisms underlying the carcinogenesis of this syndrome have been investigated by many researchers, and finally, genes related to the mismatch repair (MMR) system during DNA replication were found to be the cause of this disease during the 1990s. Four mismatch repair genes—MSH2, MLH1, MSH6, and PMS1—which are responsible for maintaining the genome fidelity by repairing base mismatches dur
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