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Constitutional Oncogenetics 1st Edition Instant Download

The book 'Constitutional Oncogenetics' provides a comprehensive overview of genetic predisposition to cancer, detailing various hereditary syndromes and their clinical implications. It emphasizes the importance of oncogenetic counseling and monitoring for families at high risk of cancer, based on the author's extensive experience in French oncogenetic services. The work serves as a valuable reference for medical professionals and students in the field of oncogenetics.

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212 views15 pages

Constitutional Oncogenetics 1st Edition Instant Download

The book 'Constitutional Oncogenetics' provides a comprehensive overview of genetic predisposition to cancer, detailing various hereditary syndromes and their clinical implications. It emphasizes the importance of oncogenetic counseling and monitoring for families at high risk of cancer, based on the author's extensive experience in French oncogenetic services. The work serves as a valuable reference for medical professionals and students in the field of oncogenetics.

Uploaded by

hon.gboangdoe.tsach
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Constitutional Oncogenetics, 1st Edition

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5.9. Monitoring
6 Hereditary Paraganglioma– pheochromocytoma
6.1. Introduction
6.2. Prevalence
6.3. When to suspect a PCC/PGL
6.4. Tumors
6.5. Genes
6.6. Genotype–phenotype correlations
6.7. Penetrance
6.8. Mode of transmission
6.9. Monitoring
7 Birt–Hogg–Dubé Syndrome
7.1. Introduction
7.2. Prevalence
7.3. When to suspect BHD syndrome
7.4. Tumors
7.5. Gene
7.6. Genotype–phenotype correlations
7.7. Penetrance
7.8. Mode of transmission
7.9. Monitoring
8 RASopathies
8.1. Introduction
8.2. Prevalence
8.3. When to suspect RASopathies
8.4. Tumors
8.5. Genes
8.6. Genotype–phenotype correlations
8.7. Penetrance
8.8. Mode of transmission
8.9. Monitoring
9 Familial Malignant Melanoma
9.1. Introduction
9.2. Prevalence
9.3. When to suspect familial malignant melanoma
9.4. Tumors
9.5. Genes
9.6. Genotype–phenotype correlations
9.7. Penetrance
9.8. Mode of transmission
9.9. Monitoring
10 Gorlin Syndrome
10.1. Introduction
10.2. Prevalence
10.3. When to suspect GS
10.4. Tumors
10.5. Genes
10.6. Genotype–phenotype correlations
10.7. Penetrance
10.8. Mode of transmission
10.9. Monitoring
PART 2: Infracentesimal Syndromes
11 Li—Fraumeni Syndrome
11.1. Introduction
11.2. Gene
11.3. Tumors
11.4. Genetics
11.5. Monitoring
12 Ataxia–telangiectasia
12.1. Introduction
12.2. Gene
12.3. Tumors
12.4 Genetics
12.5. Monitoring
13 Hyperparathyroidism
13.1. Introduction
13.2. Gene
13.3. Tumors
13.4. Genetics
13.5. Monitoring
14 Hamartomatous Polyposis Syndromes
14.1. PTEN-hamartoma tumor syndromes
14.2. Juvenile polyposis syndrome
14.3. Peutz–Jeghers syndrome
15 Fanconi Syndrome
15.1. Introduction
15.2. Gene
15.3. Tumors
15.4. Genetics
15.5. Monitoring
16 Hereditary Diffuse Gastric Cancer
16.1. Introduction
16.2. Gene
16.3. Tumors
16.4. Genetics
16.5. Monitoring
17 Von Hippel–Lindau Disease
17.1. Introduction
17.2. Gene
17.3. Tumors
17.4. Genetics
17.5. Monitoring
18 Xeroderma Pigmentosum
18.1. Introduction
18.2. Gene
18.3. Tumors
18.4. Genetics
18.5. Monitoring
19 Hereditary Papillary Renal Carcinoma
19.1. Introduction
19.2. Gene
19.3. Tumors
19.4. Genetics
19.5. Monitoring
20 Retinoblastoma
20.1. Introduction
20.2. Gene
20.3. Tumors
20.4. Genetics
20.5. Monitoring
21 Carney Complex
21.1. Introduction
21.2. Gene
21.3. Tumors
21.4. Genetics
21.5. Monitoring
22 Hematological Malignancies
22.1. Introduction
22.2. Gene
22.3. Tumors
22.4. Genetics
22.5. Monitoring
23 Familial Pituitary Adenomas
23.1. Introduction
23.2. Gene
23.3. Tumors
23.4. Genetics
23.5. Monitoring
24 Bloom Syndrome
24.1. Introduction
24.2. Gene
24.3. Tumors
24.4. Genetics
24.5. Monitoring
25 Werner Syndrome
25.1. Introduction
25.2. Gene
25.3. Tumors
25.4. Genetics
25.5. Monitoring
Appendix: Summary of the Book
References
Birt–Hogg–Dubé syndrome
Breast-ovarian cancer syndrome
Endocrine neoplasia
Familial adenomatous polyposis
Familial malignant melanoma
Gorlin syndrome
Hereditary pheochromocytoma and paraganglioma
Infracentesimal syndromes
Lynch syndrome
Neurofibromatosis
RASopathies
Index
End User License Agreement

List of Tables
Introduction

Table I.1 Statistics on index patients and their relatives carrying a


genetic al...

Table I.2 Order of syndromes according to their frequency (as


deduced from stati...

Chapter 1

Table 1.1. Spectrum of cancers in carriers of BRCA1 and BRCA2


pathogenic variant...

Chapter 2

Table 2.1. Subtypes of Lynch syndrome (AD: autosomal


dominant; AR: autosomal rec...
Table 2.2. Estimated lifetime cancer risks in Lynch syndrome by
gene

Table 2.3. Cumulative incidence of cancer in 75 year old patients


with Lynch syn...

Table 2.4. Histological characteristics of tumors in relation to


Lynch syndrome

Chapter 4

Table 4.1. Summary of different types of polyposis adenomatous


syndromes

Table 4.2. MUTYH founder mutations in patients of different


ethnic backgrounds; ...

Chapter 5

Table 5.1. Patient monitoring for MEN1 mutation carriers

Chapter 6

Table 6.1. Characteristics of hereditary diseases associated with


pheochromocyto...

Table 6.2. Monitoring program. FPM: free plasma


metanephrines; RBC: red blood ce...

Chapter 7

Table 7.1. Frequency of renal mass type in the general population


and in patient...

Chapter 8

Table 8.1 Clinical classification of different types of RASopathies

Chapter 9

Table 9.1. Assessment tool for genetic testing (in the context of
suspicions of ...

Chapter 10
Table 10.1. Diagnostic criteria for Gorlin syndrome

List of Illustrations
Introduction

Figure I.1. Global path of the index patient and their family
members in the onc...

Chapter 1

Figure 1.1. Familial pancreatic cancer in a syndromic context;


identification of...

Figure 1.2. BRCA2 mutations are associated with breast and


ovarian cancer, but a...

Figure 1.3. Incomplete penetrance. Individual II3 is an obligatory


carrier of th...

Figure 1.4. Identifying at-risk individuals in the family (by testing


family mem...

Figure 1.5. Fanconi disease: autosomal recessive transmission.


Both parents are ...

Chapter 2

Figure 2.1. Autosomal dominant transmission Lynch syndrome


(MMR +/–): (a) involv...

Figure 2.2. CMMRD syndrome (constitutional MMR deficiency)


recessive autosomic t...

Figure 2.3. Virtual colonoscopy can create a three-dimensional


(3D) anatomical m...

Figure 2.4. Bladder cancer. Computed tomography (CT) scan of


the bladder showing...

Chapter 3

Figure 3.1. De novo mutations are more or less frequent


according to the genes i...

Figure 3.2. Family tree showing index case c2 (black arrow)


diagnosed with invas...

Figure 3.3. Astrocytomas. For a color version of this figure, see


www.iste.co.uk...

Chapter 4

Figure 4.1. (a) Countless polyps are present throughout the colon
and rectum, ra...

Figure 4.2. Classification of colorectal cancer predisposition


syndromes

Chapter 5

Figure 5.1. MEN1 pedigree; d.: death; dx: age at diagnosis

Chapter 6

Figure 6.1. Adrenal pheochromocytoma: (a) computed


tomography (CT) scan of an ad...

Figure 6.2. History of publications linking methylation defects to


cancer

Chapter 7

Figure 7.1. BHD renal tumors, bilateral. Axial view of the mid-
section of an ind...

Chapter 9

Figure 9.1. Beauty spots

Figure 9.2. Melanomas

Figure 9.3. Pancreatic cancer in the context of family aggregation

Figure 9.4. Metastatic melanoma: (a) computed tomography (CT)


scan of the rib, s...

Chapter 10
Figure 10.1. Photograph of basal cell carcinoma

Chapter 17

Figure 17.1. VHL, hemangioblastoma. For a color version of this


figure, see www....

Figure 17.2. VHL, renal tumors, bilateral. For a color version of


this figure, s...

Chapter 19

Figure 19.1. HLRCC, renal tumor. For a color version of this


figure, see www.ist...
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

27-37 St George’s Road

London SW19 4EU

UK

www.iste.co.uk (http://www.iste.co.uk)

John Wiley & Sons, Inc.

111 River Street

Hoboken, NJ 07030

USA

www.wiley.com (http://www.wiley.com)

© 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 the suspicion of their presence is
the primary reason for oncogenetic consultations. Genetic alterations
predisposing to these two syndromes identified in index patients and their
relatives in 2016 in France represented 67% of all genetic predispositions
to cancer (breast/ovary 53% and Lynch 14%). We then deal with the other
syndromes for which the percentage of genetic alterations identified as
predisposing them is greater than 1%. In Part 2, we describe the
syndromes for which the percentage of genetic alterations predisposing
them is less than 1%.

DEFINITION.– The term index case (patient zero) is used to refer to the
first person in an outbreak to have been infected with a pathogen. Here,
the index case or index patient is the first person in a family where a
genetic abnormality (mutation in the broadest sense) has been detected.

DEFINITION.– The term relative refers to a person who has a family

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