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
8 Appendix: Summary of the Book
9 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
10 Index
List of Tables
1 IntroductionTable 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...
2 Chapter 1Table 1.1. Spectrum of cancers in carriers of BRCA1 and BRCA2 pathogenic variant...
3 Chapter 2Table 2.1. Subtypes of Lynch syndrome (AD: autosomal dominant; AR: autosomal rec...Table 2.2. Estimated lifetime cancer risks in Lynch syndrome by geneTable 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
4 Chapter 4Table 4.1. Summary of different types of polyposis adenomatous syndromesTable 4.2. MUTYH founder mutations in patients of different ethnic backgrounds; ...
5 Chapter 5Table 5.1. Patient monitoring for MEN1 mutation carriers
6 Chapter 6Table 6.1. Characteristics of hereditary diseases associated with pheochromocyto...Table 6.2. Monitoring program. FPM: free plasma metanephrines; RBC: red blood ce...
7 Chapter 7Table 7.1. Frequency of renal mass type in the general population and in patient...
8 Chapter 8Table 8.1 Clinical classification of different types of RASopathies
9 Chapter 9Table 9.1. Assessment tool for genetic testing (in the context of suspicions of ...
10 Chapter 10Table 10.1. Diagnostic criteria for Gorlin syndrome
List of Illustrations
1 IntroductionFigure I.1. Global path of the index patient and their family members in the onc...
2 Chapter 1Figure 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 ...
3 Chapter 2Figure 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...
4 Chapter 3Figure 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...
5 Chapter 4Figure 4.1. (a) Countless polyps are present throughout the colon and rectum, ra...Figure 4.2. Classification of colorectal cancer predisposition syndromes
6 Chapter 5Figure 5.1. MEN1 pedigree; d.: death; dx: age at diagnosis
7 Chapter 6Figure 6.1. Adrenal pheochromocytoma: (a) computed tomography (CT) scan of an ad...Figure 6.2. History of publications linking methylation defects to cancer
8 Chapter 7Figure 7.1. BHD renal tumors, bilateral. Axial view of the mid-section of an ind...
9 Chapter 9Figure 9.1. Beauty spotsFigure 9.2. MelanomasFigure 9.3. Pancreatic cancer in the context of family aggregationFigure 9.4. Metastatic melanoma: (a) computed tomography (CT) scan of the rib, s...
10 Chapter 10Figure 10.1. Photograph of basal cell carcinoma
11 Chapter 17Figure 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...
12 Chapter 19Figure 19.1. HLRCC, renal tumor. For a color version of this figure, see www.ist...
Guide
1 Cover
6 Foreword