Molecular Genetics of Colorectal Neoplasia: A Primer for the Clinician

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Springer Science & Business Media, 2004 - Medical - 174 pages

Molecular Genetics of Colorectal Neoplasia A Primer for the Clinician provides the latest information on the genetics of colorectal cancer within a context of basic genetics, describing the subject in understandable language and making it clinically relevant. In this way, clinicians can become familiar with genetic terms and techniques related to colorectal neoplasia, providing a background upon which to build an appreciation of future advances and an ability to include them in the practicalities of patient care.

This edition is intended for the healthcare provider or industry concerned with colorectal neoplasia: including general and colorectal surgeons, pathologists, oncologists, gastroenterologists, internal medicine and family practice physicians, nurses, geneticists, counsellors, registry co-ordinators, epidemiologists, and statisticians.

 

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Contents

AN INTRODUCTION TO GENETICS
1
12 BASIC GENETICS
2
13 BASIC MOLECULAR GENETICS
7
REFERENCES AND RECOMMENDED READING
11
CHANGES IN GENE FUNCTION MUTATIONS METHYLATION AND VARIATION IN EXPRESSION
13
SOMATIC VERSUS GERMLINE MUTATIONS
17
23 DOMINANT VERSUS RECESSIVE INHERITANCE
19
24 CAUSES OF MUTATIONS THAT UNDERLIE LARGE BOWEL NEOPLASIA
21
REFERENCES AND RECOMMENDED READING
87
FAMILY HISTORY THE KEY THAT UNLOCKS THE DOOR TO FAMILIAL COLORECTAL CANCER
91
72 DEFINING LEVEL OF RISK
93
73 SCREENING HIGH RISK FAMILIES
95
74 HOW TO TAKE A FAMILY HISTORY AND HOW TO INTERPRET THE RESULTS
97
75 THE FAMILY TREE
98
REFERENCES AND RECOMMENDED READING
101
PATIENTS AND THEIR FAMILIES WITH A FAMILY HISTORY OF COLORECTAL CANCER
103

MOLECULAR GENETICS METHODS SIMPLIFIED
27
32 MUTATION ANALYSIS FOR INHERITED DISORDERS
35
33 GENE EXPRESSION IN TUMORS
38
34 DETECTING HYPERMETHYLATION
40
35 RECOMBINANT DNA TECHNOLOGY
41
36 THE HUMAN GENOME PROJECT
42
37 TISSUE BANKS
43
GENES AND CELL HOMEOSTASIS
45
42 REGULATION OF CELL GROWTH
46
43 APOPTOSIS OR PROGRAMMED CELL DEATH
55
REFERENCES AND RECOMMENDED READING
56
PATHOLOGY OF COLORECTAL NEOPLASIA
57
53 WHAT IS AN ADENOMA?
59
54 WHAT IS A CARCINOMA?
62
55 HOW DO COLORECTAL NEOPLASMS EVOLVE?
63
56 COLORECTAL FERTILITY FOR NEOPLASIA
64
57 HAMARTOMATOUS POLYPS
65
REFERENCES
66
MOLECULAR GENETICS OF COLORECTAL NEOPLASIA
69
62 THE GENES INVOLVED IN COLORECTAL NEOPLASIA
70
63 DNA REPAIR
76
64 SIGNAL TRANSDUCTION CASCADES GENETIC EVENTS AND THE TWO GENETIC ROUTES TO COLORECTAL NEOPLASIA
82
65 TELOMERES AND TELOMERASE
86
82 COUNSELING
105
REFERENCES AND RECOMMENDED READING
107
THE INHERITED SYNDROMES FAMILIAL ADENOMATOUS POLYPOSIS HEREDITARY NONPOLYPOSIS COLORECTAL CANCER AND T...
109
92 DUODENAL NEOPLASIA
118
93 DESMOID TUMORS
119
94 OTHER TUMORS
121
95 ATTENUATED POLYPOSIS AAPC
122
97 HEREDITARY NON POLYPOSIS COLORECTAL CANCER
123
98 THE HAMARTOMATOUS POLYPOSES
129
REFERENCES AND RECOMMENDED READING
134
A REGISTRY FOR INHERITED COLORECTAL CANCER
139
103 STARTING A REGISTRY
143
104 HIPAA AND ITS IMPLICATIONS FOR REGISTRY RESEARCH
146
REFERENCES AND RECOMMENDED READING
148
PRACTICAL APPLICATIONS OF THE MOLECULAR GENETICS OF COLORECTAL CANCER
149
112 GENETICS IN DIAGNOSIS
150
113 GENETICS IN PROGNOSIS
151
114 GENETICS IN TREATMENT
152
115 CLINICAL GENETICS
154
GLOSSARY
159
INDEX
169
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