Molecular genetics of colorectal neoplasia: a primer for the clinician
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| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Boston ; Dordrecht [u.a.]
Kluwer Academic Publishers
2004
|
| Edition: | 2. ed. |
| Series: | Developments in oncology
82 |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Item Description: | Includes bibliographical references and index |
| Physical Description: | XVIII, 174 S. zahlr. Ill. und graph. Darst. |
| ISBN: | 1402076118 |
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| 245 | 1 | 0 | |a Molecular genetics of colorectal neoplasia |b a primer for the clinician |c James Church and Graham Casey |
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| 264 | 1 | |a Boston ; Dordrecht [u.a.] |b Kluwer Academic Publishers |c 2004 | |
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Record in the Search Index
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| adam_text | CONTENTS
CHAPTER 1. AN INTRODUCTION TO
GENETICS 1
1.1 WHAT IS GENETICS?
WHAT IS HEREDITY? 1
1.2 BASIC GENETICS 2
1.3 BASIC MOLECULAR GENETICS 7
REFERENCES AND RECOMMENDED READING 11
CHAPTER 2. CHANGES IN
GENE FUNCTION 13
2.1 MUTATIONS 13
2.2 MUTATIONS AND INHERITANCE 17
2.3 DOMINANT VS RECESSIVE INHERITANCE 19
2.4 CAUSES OF MUTATIONS THAT UNDERLIE 21
LARGE BOWEL NEOPLASIA
2.5 REDUCTION OF EXPRESSION 22
REFERENCES AND RECOMMENDED READING 24
viii
CHAPTER 3. MOLECULAR GENETICS 27
METHODS SIMPLIFIED
3.1 BASIC TECHNIQUES IN DNA ANALYSIS 27
3.2 MUTATION ANALYSIS FOR INHERITED 35
DISORDERS
3.3 GENE EXPRESSION IN TUMORS 38
3.4 DETECTING HYPERMETHYLATION 40
3.5 RECOMBINANT DNA TECHNOLOGY 41
3.6 THE HUMAN GENOME PROJECT 42
3.7 TISSUE BANKS 43
RECOMMENDED READING 43
CHAPTER 4. GENES AND CELL 45
HOMEOSTASIS
4.1 SOME DIFFERENCES BETWEEN 45
CULTURED NORMAL CELLS AND
CANCER CELLS
4.2 REGULATION OF CELL GROWTH 46
4.3 APOPTOSIS OR PROGRAMMED 55
CELL DEATH
REFERENCES AND RECOMMENDED READING 56
i.
CHAPTER 5. PATHOLOGY OF 57
COLORECTAL NEOPLASIA
5.1 WHAT IS NEOPLASIA? 57
5.2 WHAT IS DYSPLASIA? 57
5.3 WHAT IS AN ADENOMA? 59
5.4 WHAT IS A CARCINOMA? 62
5.5 HOW DO COLORECTAL NEOPLASMS 63
EVOLVE?
5.6 COLORECTAL FERTILITY FOR 64
NEOPLASIA
5.7 HAMARTOMATOUS POLYPS 65
REFERENCES 66
CHAPTER 6. MOLECULAR GENETICS OF 69
COLORECTAL NEOPLASIA
6.1 THE ADENOMA CARCINOMA SEQUENCE 69
6.2 THE GENES INVOLVED IN 70
COLORECTAL NEOPLASIA
6.3 DNA REPAIR 76
6.4 SIGNAL TRANSDUCTION CASCADES, 82
GENETIC EVENTS AND THE TWO GENETIC
ROUTES TO COLORECTAL NEOPLASIA
X
6.5 TELOMERES AND TELOMERASE 86
REFERENCES AND RECOMMENDED READING 87
CHAPTER 7. FAMILY HISTORY: THE 91
KEY THAT UNLOCKS THE DOOR
TO FAMILIAL COLORECTAL CANCER
7.1 THE SIGNIFICANCE OF A FAMILY 91
HISTORY OF COLORECTAL NEOPLASIA
7.2 DEFINING LEVEL OF RISK 93
7.3 SCREENING HIGH RISK FAMILIES 95
7.4 HOW TO TAKE A FAMILY HISTORY 97
AND HOW TO INTERPRET THE RESULTS
7.5 THE FAMILY TREE 98
REFERENCES AND RECOMMENDED READING 101
CHAPTER 8. PATIENTS AND THEIR 103
FAMILIES WITH A FAMILY HISTORY
OF COLORECTAL CANCER
8.1 EDUCATION 103
8.2 COUNSELING 105
REFERENCES AND RECOMMENDED READING ...107
xi
CHAPTER 9. INHERITED SYNDROMES: 109
FAMILIAL ADENOMATOUS POLYPOSIS,
HEREDITARY NON POLYPOSIS
COLORECTAL CANCER, AND THE
HAMARTOMATOUS POLYPOSES
9.1 FAMILIAL ADENOMATOUS POLYPOSIS 109
9.2 DUODENAL NEOPLASIA 118
9.3 DESMOID TUMORS 119
9.4 OTHER TUMORS 121
9.5 ATTENUATED POLYPOSIS (AAPC) 122
9.6 FAPANDHNPCC 122
9.7 HEREDITARY NON POLYPOSIS 123
COLORECTAL CANCER
9.8 THE HAMARTOMATOUS POLYPOSES 129
REFERENCES AND RECOMMENDED READING 134
CHAPTER 10. A REGISTRY FOR 139
INHERITED COLORECTAL CANCER
10.1 DEFINITION 139
10.2 ROLES OF A REGISTRY 139
10.3 STARTING A REGISTRY 143
10.4 HIPAA AND ITS IMPLICATIONS FOR 146
REGISTRY RESEARCH
xii
REFERENCES AND RECOMMENDED READING 148
CHAPTER 11. PRACTICAL 149
APPLICATIONS OF THE MOLECULAR
GENETICS OF COLORECTAL CANCER
11.1 GENETICS IN SCREENING 149
11.2 GENETICS IN DIAGNOSIS 150
11.3 GENETICS IN PROGNOSIS 151
11.4 GENETICS IN TREATMENT 152
11.5 CLINICAL GENETICS 154
REFERENCES AND RECOMMENDED READING ....154
GLOSSARY 159
INDEX 169
LIST OF FIGURES
Figure 1.1 Purine and pyrimidine bases 2
Figure 1.2 Structure of DNA 5
figure 1.3 Chromosome structure 6
figure 1.4 A karyotype 6
figure 1.5 DNA replication 7
figure 1.6 Anatomy of a gene 9
figure 1.7 Protein from DNA 10
figure 1.8 Construction of a polypeptide in a ribosome 11
Figure 2.1 Point mutations 16
figure 2.2 frameshift mutations 16
figure 2.3 Somatic and germline mutations 18
figure 2.4 Dominant and recessive inheritance 19
figure 3.1 A summary of the processes of DNA extraction, digestion, 27
per amplification, separation by electrophoresis,
transfer by southern blot and labelling by auto
radiography
figure 3.2 Protein electrophoresis 29
figure 3.3 Southern blot 29
figure 3.4 Polymerase chain reaction 30
figure 3.5 Linkage analysis 32
figure 4.1 The cell cycle ; a simplified view 47
figure 4.2 Cell cycle control: details of some of the factors 48
controlling cell division
figure 4.3 Oncogenes and tumor suppressor genes 52
figure 5.1 Dysplasia in the colorectal epithelium 58
figure 5.2 Colonic adenomas; pedunculated and sessile 60
xiv
figure 5.3 Flat and depressed adenomas 60
figure 5.4 Tubular adenoma and villous adenoma 62
figure 5.5 Hyperplastic polyp 66
figure 5.6 Hamartomatous polyp 66
figure 6.1 The pathway to colorectal cancer 69
figure 6.2 The Wnt/Wingless signaling pathway 71
figure 6.3 Control of ras activation by GTP/GDP molecular switch 72
figure 6.4 TGFp signaling pathway 74
figure 6.5 DNA mismatch repair 78
figure 6.6 Microsatellite instability in colorectal cancer 80
figure 6.7 Somatic pathways to colorectal cancer 81
figure 7.1 Example of a typical family tree 99
figure 7.2 Symbols used in constructing a family tree 100
figure 8.1 Educational resources for families with colorectal cancer 103
figure 8.2 Polyp man , visiting the Colorectal Cancer 104
Awareness display at the Cleveland Clinic, March 2003.
figure 9.1 APC Ill
figure 9.2 Genotype phenotype relationships of APC 114
figure 9.3 Surgical options in FAP 115
figure 9 4 Pouch polyposis in FAP 117
figure 9.5 Duodenal adenomas 117
figure 9.6a Abdominal wall desmoid tumors 119
figure 9.6b Intra abdominal desmoid tumor 119
figure 9.7 Dcsmoid type reaction in the small bowel mesentery 120
figure 9.8 Professor Henry Lynch 125
figure 9.9 Algorithm for genetic testing of patients and tumors 126
where the family history or phototype of the tumor
suggests HNPCC
figure 9.10 Overlap between inherited syndromes of colorectal cancer 127
XV
figure 9. 11 Pcul/. Jchgcr s syndrome polyps 1.11
figure 9.12 Juvenile polyps }2
figure 10.1 A registry for inherited colorecial cancer 140
figure 10.2 The registry coordinator 144
figure 10.3 The registry team 144
|
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| indexdate | 2024-07-09T19:18:22Z |
| institution | BVB |
| isbn | 1402076118 |
| language | English |
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| series | Developments in oncology |
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| spelling | Church, James M. Verfasser aut Molecular genetics of colorectal neoplasia a primer for the clinician James Church and Graham Casey 2. ed. Boston ; Dordrecht [u.a.] Kluwer Academic Publishers 2004 XVIII, 174 S. zahlr. Ill. und graph. Darst. txt rdacontent n rdamedia nc rdacarrier Developments in oncology 82 Includes bibliographical references and index Colon (Anatomy) Cancer Genetic aspects Colon (Anatomy) Cancer Molecular aspects Colorectal Neoplasms genetics Molecular Biology methods Rectum Cancer Genetic aspects Rectum Cancer Molecular aspects Molekulargenetik (DE-588)4039987-4 gnd rswk-swf Dickdarmkrebs (DE-588)4012122-7 gnd rswk-swf Dickdarmkrebs (DE-588)4012122-7 s Molekulargenetik (DE-588)4039987-4 s DE-604 Casey, Graham Verfasser aut Developments in oncology 82 (DE-604)BV036830146 82 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010522745&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Church, James M. Casey, Graham Molecular genetics of colorectal neoplasia a primer for the clinician Developments in oncology Colon (Anatomy) Cancer Genetic aspects Colon (Anatomy) Cancer Molecular aspects Colorectal Neoplasms genetics Molecular Biology methods Rectum Cancer Genetic aspects Rectum Cancer Molecular aspects Molekulargenetik (DE-588)4039987-4 gnd Dickdarmkrebs (DE-588)4012122-7 gnd |
| subject_GND | (DE-588)4039987-4 (DE-588)4012122-7 |
| title | Molecular genetics of colorectal neoplasia a primer for the clinician |
| title_auth | Molecular genetics of colorectal neoplasia a primer for the clinician |
| title_exact_search | Molecular genetics of colorectal neoplasia a primer for the clinician |
| title_full | Molecular genetics of colorectal neoplasia a primer for the clinician James Church and Graham Casey |
| title_fullStr | Molecular genetics of colorectal neoplasia a primer for the clinician James Church and Graham Casey |
| title_full_unstemmed | Molecular genetics of colorectal neoplasia a primer for the clinician James Church and Graham Casey |
| title_short | Molecular genetics of colorectal neoplasia |
| title_sort | molecular genetics of colorectal neoplasia a primer for the clinician |
| title_sub | a primer for the clinician |
| topic | Colon (Anatomy) Cancer Genetic aspects Colon (Anatomy) Cancer Molecular aspects Colorectal Neoplasms genetics Molecular Biology methods Rectum Cancer Genetic aspects Rectum Cancer Molecular aspects Molekulargenetik (DE-588)4039987-4 gnd Dickdarmkrebs (DE-588)4012122-7 gnd |
| topic_facet | Colon (Anatomy) Cancer Genetic aspects Colon (Anatomy) Cancer Molecular aspects Colorectal Neoplasms genetics Molecular Biology methods Rectum Cancer Genetic aspects Rectum Cancer Molecular aspects Molekulargenetik Dickdarmkrebs |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010522745&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV036830146 |
| work_keys_str_mv | AT churchjamesm moleculargeneticsofcolorectalneoplasiaaprimerfortheclinician AT caseygraham moleculargeneticsofcolorectalneoplasiaaprimerfortheclinician |