Constitutional Oncogenetics

Оглавление

Noureddine Boukhatem. Constitutional Oncogenetics

Table of Contents

List of Tables

List of Illustrations

Guide

Pages

Constitutional Oncogenetics

Foreword

Introduction

1. Hereditary Breast and Ovarian Cancer Syndrome Including Isolated Ovarian Cancers

1.1. Introduction

1.2. Prevalence

1.2.1. Genetic risk assessment criteria1. 1.2.1.1. A person with cancer

1.2.1.2. Person with no personal history of cancer

1.3. Indications for genetic testing

1.4. Tumors. 1.4.1. Breast

1.4.2. Ovaries

1.5. Genes. 1.5.1. BRCA1

1.5.2. BRCA2

1.5.3. CHEK2

1.5.4. PALB2

1.5.5. NBN

1.5.6. BARD1

1.5.7. BRIP1

1.5.8. RAD51C

1.5.9. RAD51D

1.6. Genotype–phenotype correlations

1.7. Penetrance

1.8. Mode of transmission

1.9. Risks to family members: special consideration

1.10. Monitoring

1.10.1. Women

1.10.2. Men15

1.10.3. Men and women

1.10.4. Risks to relatives

1.10.5. Reproductive options

2. Lynch Syndrome. 2.1. Introduction

2.2. Prevalence

2.3. Genes

2.4. Genotype–phenotype correlations

2.5. Penetrance and survival

2.6. Long-term prevalence of cancer in LS patients

2.7. Mode of transmission

2.8. When to suspect LS

2.8.1. Amsterdam II criteria

2.8.2. Criteria to help identify families with LS

2.8.3. Revised Bethesda criteria

2.8.4. Spectra and syndromes

2.9. Tumors. 2.9.1. Colorectal cancer

2.9.2. Endometrial cancer

2.9.3. Bladder and urothelial tract

2.9.4. Dermatological tumors

2.9.5. Pancreatic tumors

2.9.6. Tumors of the ovary

2.9.7. Brain tumors

2.10. Monitoring. 2.10.1. Colorectal cancer risks

2.10.2. GC risks

2.10.3. Risks of endometrial and ovarian cancer

2.10.4. Risks to the bladder and urothelial tract

2.10.5. Risks of dermatological tumors

2.10.6. Risks for other types of cancer

3. Neurofibromatosis. 3.1. Introduction

3.2. Neurofibromatosis type 1. 3.2.1. Introduction

3.2.2. Prevalence

3.2.3. When to suspect NF1

3.2.4. Tumors

3.2.5. Gene

3.2.6. Genotype–phenotype correlations

3.2.7. Penetrance

3.2.8. Mode of transmission

3.2.8.1. Risk to family members. 3.2.8.1.1. Parents of a proband

3.2.8.1.2. Related to a proband

3.2.8.2. Lineage of a proband

3.2.8.3. Problematic cases related to genetic counseling

3.2.9. Monitoring

3.3. Neurofibromatosis type 2. 3.3.1. Introduction

3.3.2. Prevalence

3.3.3. When to suspect NF2

3.3.4. Tumors. 3.3.4.1. Vestibular schwannomas

3.3.4.2. Intracranial meningiomas

3.3.4.3. Spinal tumors

3.3.5. Gene

3.3.6. Genotype–phenotype correlations

3.3.7. Penetrance

3.3.8. Mode of transmission

3.3.9. Risks to family members

3.3.10. Monitoring

3.4. Schwannomatosis. 3.4.1. Introduction

3.4.2. Prevalence

3.4.3. When to suspect schwannomatosis

3.4.4. Tumors

3.4.5. Genes

3.4.6. Genotype–phenotype correlations

3.4.7. Penetrance

3.4.8. Mode of transmission

3.4.9. Monitoring

4. Familial Adenomatous Polyposis. 4.1. Introduction

4.1.1. FAP

4.1.2. AFAP

4.1.3. MAP

4.1.4. NAP

4.1.5. PPAP

4.2. Prevalence. 4.2.1. FAP

4.2.2. MAP

4.2.3. NAP

4.2.4. PPAP

4.3. When to suspect FAP

4.4. Tumors. 4.4.1. FAP

4.4.2. MAP

4.4.3. NAP

4.4.4. PPAP

4.5. Genes. 4.5.1. APC

4.5.2. MUTYH

4.5.3. NTHL1

4.5.4. POLE and POLD1

4.6. Genotype–phenotype correlations. 4.6.1. FAP

4.6.2. MAP

4.6.3. PPAP

4.7. Penetrance. 4.7.1. FAP

4.7.2. MAP

4.7.3. PPAP

4.8. Mode of transmission

4.9. Monitoring. 4.9.1. FAP

4.9.2. Monitoring of extracolonic cancer

4.9.3. MAP

4.9.4. NAP

4.9.5. PPAP

5. Endocrine Neoplasia. 5.1. Introduction

5.1.1. MEN1

5.1.2. MEN2

5.1.2.1. MEN2A

5.1.2.2. MEN2B

5.1.2.3. FMTC

5.1.3. MEN4

5.1.4. HPT-JT

5.2. Prevalence

5.3. When to suspect endocrine neoplasia

5.4. Tumors. 5.4.1. MEN1

5.4.2. MEN2

5.4.3. MEN4

5.4.4. HPT-JT

5.5. Genes. 5.5.1. MEN1

5.5.2. RET

5.5.3. CDKN1B

5.5.4. CDC73

5.6. Genotype–phenotype correlations. 5.6.1. MEN1

5.6.2. MEN2

5.6.3. MEN4

5.6.4. HPT-JT

5.7. Penetrance. 5.7.1. MEN1

5.7.2. MEN2

5.7.3. MEN4

5.7.4. HPT-JT

5.8. Mode of transmission

5.9. Monitoring. 5.9.1. MEN1

5.9.2. MEN2. 5.9.2.1. MTC

5.9.2.2. PHEO

5.9.2.3. PHPT: hyperparathyroidism

5.9.3. MEN4

5.9.4. HPT-JT

6. Hereditary Paraganglioma– pheochromocytoma. 6.1. Introduction

6.2. Prevalence

6.3. When to suspect a PCC/PGL. 6.3.1. Pheochromocytomas

6.3.2. Paragangliomas

6.3.3. Paragangliomas of the head and neck

6.3.4. Sympathetic paragangliomas

6.4. Tumors

6.5. Genes

6.5.1. SDHx, SDHAF2 and EPAS1

6.5.2. TMEM127 and MAX

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. 9.4.1. CDKN2A

9.4.2. BAP1

9.4.3. MITF

9.4.4. POT1

9.5. Genes. 9.5.1. CDKN2A

9.5.2. MITF

9.5.3. POT1

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

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. 13.3.1. FIHPT

13.3.2. FHH

13.3.3. NSHPT

13.4. Genetics. 13.4.1. FIHPT

13.4.2. FHH

13.4.3. NSHPT

13.5. Monitoring

14. Hamartomatous Polyposis Syndromes

14.1. PTEN-hamartoma tumor syndromes. 14.1.1. Introduction

14.1.1.1. Cowden syndrome

14.1.1.2. Bannayan–Riley–Ruvalcaba syndrome

14.1.2. Gene

14.1.3. Tumors. 14.1.3.1. CS

14.1.3.2. BRRS

14.1.4. Genetics

14.1.5. Monitoring

14.2. Juvenile polyposis syndrome. 14.2.1. Introduction

14.2.2. Gene

14.2.3. Tumors

14.2.4. Genetics

14.2.5. Monitoring

14.3. Peutz–Jeghers syndrome. 14.3.1. Introduction

14.3.2. Gene

14.3.3. Tumors

14.3.4. Genetics

14.3.5. Monitoring

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. 19.2.1. MET

19.2.2. FH

19.3. Tumors. 19.3.1. HPRC

19.3.2. HLRCC

19.4. Genetics. 19.4.1. HPRC type 1

19.4.2. HLRCC

19.5. Monitoring. 19.5.1. HPRC

19.5.2. HLRCC

20. Retinoblastoma. 20.1. Introduction

20.2. Gene

20.3. Tumors

20.4. Genetics

20.5. Monitoring

20.5.1. Monitoring for intraocular RB

20.5.2. Monitoring for trilateral RB

20.5.3. Monitoring of second primary tumors

21. Carney Complex. 21.1. Introduction

21.2. Gene

21.3. Tumors

21.4. Genetics

21.5. Monitoring

21.5.1. Screening of prepubescent children

21.5.2. Annual screening of children and postpubescent adults

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. A

B

C

D, E

F

G, H

I, J, K

L

M

N, O

P

R

S

T

U, V

W, X

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Отрывок из книги

To my colleagues and friends from the oncogenetics centers from whom I have learned so much:

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The nibrin gene (NBN): mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth delay, immunodeficiency and a predisposition to cancer. The coded protein is a member of the MRE11/RAD50 double-strand break repair that consists of five proteins. The protein is thought to be involved in the repair of double-stranded DNA breaks and in the activation of check points induced by DNA damage.

DEFINITION.– Microcephaly is an abnormality of the head (small size), a congenital condition associated with incomplete brain development.

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