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To my colleagues and friends from the oncogenetics centers from whom I have learned so much:
Prof. Yves-Jean Bignon and his team, Centre Jean-Perrin, Clermont-Ferrand;
Dr. Olivier Caron and his team, Institut Gustave Roussy, Paris;
Dr. Dominique Stoppa Lyonnet,
Dr. Chrystelle Colas and
Dr. Emmanuelle Fourme, Institut Curie, Paris
SCIENCES
Health and Society, Field Director – Bruno Salgues
Health Changes and Resistances, Subject Head – Bruno Salgues
Constitutional Oncogenetics
Noureddine Boukhatem
First published 2021 in Great Britain and the United States by ISTE Ltd and John Wiley & Sons, Inc.
Apart from any fair dealing for the purposes of research or private study, or criticism or review, as permitted under the Copyright, Designs and Patents Act 1988, this publication may only be reproduced, stored or transmitted, in any form or by any means, with the prior permission in writing of the publishers, or in the case of reprographic reproduction in accordance with the terms and licenses issued by the CLA. Enquiries concerning reproduction outside these terms should be sent to the publishers at the undermentioned address:
ISTE Ltd
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John Wiley & Sons, Inc.
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Hoboken, NJ 07030
USA
© ISTE Ltd 2021
The rights of Noureddine Boukhatem to be identified as the author of this work have been asserted by him in accordance with the Copyright, Designs and Patents Act 1988.
Library of Congress Control Number: 2020946632
British Library Cataloguing-in-Publication Data
A CIP record for this book is available from the British Library
ISBN 978-1-78945-016-3
ERC code:
LS2 Genetics, ‘Omics’, Bioinformatics and Systems Biology
LS2_5 Epigenetics and gene regulation
LS7 Applied Medical Technologies, Diagnostics, Therapies and Public Health
LS7_2 Genetic tools for medical diagnosis
Foreword
I know Professor Noureddine Boukhatem from Mohamed I University in Morocco well, and I have been able to appreciate during his visits, since 2017, to my oncogenetics department at the Centre Jean-Perrin in Clermont-Ferrand his human qualities, his commitment and his enthusiasm for oncogenetics. A “Tour de France” of major oncogenetic consultations has enabled him to have an informed and multidisciplinary view of modern oncogenetics.
Oncogenetics is defined as the management of families presenting a suspected hereditary risk of cancer, which is considered to be the cancer risk factor with by far the highest predictive value. The discovery of the first hereditary cancer risk genes in the late 1980s (TP53 and RB1 genes) provided doctors with a diagnostic tool that was essential to the practice of oncogenetics. The high predictive value of these genetic tests enables the physician to implement screening measures for individuals and families at high risk of cancer in order to improve the prognosis when cancer occurs, but also to implement preventive measures for high-risk cancers whenever possible in order to reduce their incidence.
Oncogenetics came into existence about 30 years ago in a few countries, including France, which in 1991 created the Génétique et Cancer (Genetics and Cancer) group, which structured the national organization of oncogenetics through the implementation of the first consultations in Clermont-Ferrand, then in Lyon and then in Paris. It was not until 2002–2003 that the first cancer plan led to the creation of the Institut national du cancer (French National Cancer Institute), which then officially supported oncogenetic activities, first in the molecular diagnosis laboratory, then in consultation and then in the monitoring of people at high risk of cancer. From this support, a territorial network was set up to provide effective care for families at high risk of cancer. France has thus become a model of organization at the national level of oncogenetics.
Oncogenetics has developed mainly in Europe and North America. Unfortunately, this discipline remains elementary or reserved for a fortuitous and educated elite in many countries, particularly in Asia and Africa. This is why Professor Noureddine Boukhatem’s approach to writing a book on oncogenetics is valuable and useful for the medical community. He has produced an encyclopedic work with a concise presentation and an extensive bibliography, highly useful as a reference. This work is thus strongly recommended for oncogenetic doctors or students who are going to practice medical genetics.
Yves-Jean BIGNON
Director of the oncogenetics department
Centre Jean-Perrin in Clermont-Ferrand
October 2020
Introduction
This book offers a concise and precise state of the art in the field of genetic predisposition to cancer. It provides an up-to-date overview of a field that is still in the process of maturing. The emphasis is on clinical aspects in relation to the practice of oncogenetic counseling as undertaken in France based on my experience in three oncogenetic services (the Centre Jean-Perrin in Clermont-Ferrand, the Institut Gustave-Roussy and the Institut Curie in Paris).
In Parts 1 and 2, which are the focus of this book, we catalogue the genetic predisposition syndromes for cancer. We deal with the syndromes in order of frequency, as deduced from statistics on patients and their relatives carrying a genetic alteration predisposing to cancer and identified in 2016 by the various accredited centers reported by the Institut National du Cancer.
Thus, in Part 1, we start with breast/ovarian cancer predisposition syndrome and Lynch syndrome, of which