Genetics of Colorectal Cancer for Clinical PracticeSpringer Science & Business Media, 31 jul 1993 - 187 páginas Colorectal cancer is a collective term for a heterogeneous group of diseases. In a large proportion of cases, the condition is attributable to genetic predisposition. Those directly involved in the treatment of patients with cancer of the large bowel are confronted to an increasing degree with the genetic aspects of the disease. In familial and hereditary forms of the disorder periodic screening of the close relatives of the patients can in principle prevent disease and death from colorectal cancer. Presymptomatic diagnosis by means of DNA technology is now possible in many cases of familial adenomatous polyposis. Genetic diagnosis will be increasingly important for the identification of high-risk groups. This book summarizes those aspects of the genetics of colorectal cancer that are important for clinical pracice. It has been stated that clinicians can contribute to the goal of reducing mortality from cancer by asking each patient about his or her family history of cancer. The aim of this book is to provide a guideline for the management of those situations in which the family history of colorectal cancer is found to be positive. |
Índice
Genetic Predisposition and Illness Introduction | 6 |
12 Modes of Inheritance | 9 |
13 Autosomal Dominant Inheritance | 15 |
14 Studies at the DMA Level | 17 |
15 Rare Genetic Mechanisms | 28 |
General Aspects of Colorectal Cancer | 31 |
21 Incidence and Mortality | 32 |
22 The Role of Diet | 35 |
34 Hereditary Colorectal Cancer with Polyposis | 83 |
35 Intermediate and Miscellaneous Forms | 105 |
36 Risk Estimation for Family Members | 107 |
37 Screening of HighRisk Family Members | 108 |
38 Psychosocial Aspects of Familial Cancer | 111 |
Mechanisms of Colorectal Carcinogenesis | 113 |
41 Chromosomal Abnormalities | 114 |
42 Oncogenes and Tumour Suppressor Genes | 116 |
23 Tumour Localisation and Histological Types | 37 |
24 The AdenomaCarcinoma Sequence | 40 |
25 Estimation of Risk for Colorectal Cancer | 46 |
26 Population Screening | 47 |
27 Groups at Increased Risk for Colorectal Cancer | 50 |
28 Intervention Studies | 55 |
Familial and Hereditary Colorectal Cancer | 58 |
Polyposis and Nonpolyposis Forms | 61 |
33 Hereditary Colorectal Cancer without Polyposis | 62 |
43 DMA Repair and Immunological Mechanisms | 129 |
44 Proliferation Biomarkers | 130 |
45 Tumour Biomarkers | 133 |
Clinical Examples1 | 137 |
Guidelines for Clinical Practice | 149 |
Bibliography | 157 |
| 178 | |
Términos y frases comunes
abnormalities adenocarcinoma adenomas and carcinomas adenomatous polyps allelic allelic deletions aneuploidy APC gene autosomal dominant autosomal dominant inheritance breast cancer Bülow cancer family syndrome cancer patients carcinogenesis colon cancer Colon Rectum colonoscopy colorectal adenomas colorectal carcinoma colorectal polyps developed diagnosis discussed in section disease distal dysplasia endometrial cancer extracolonic tumours factors familial adenomatous polyposis family history FAP patients Figure first-degree relatives Gastroenterology gene carrier gene defect hereditary colorectal cancer hereditary nonpolyposis colorectal high risk histological HNPCC HNPCC kindreds HNPCC patients incidence increased risk individuals ISBN juvenile polyposis large bowel lesions linkage studies Lynch HT Lynch syndrome malignant marker Mecklin Muir-Torre's syndrome multiple mutations nonpolyposis colorectal cancer offspring of patients oncogenes patients with colorectal pedigree Peutz-Jeghers syndrome pigmentation polypectomy polyposis coli population presymptomatic Rectum relatives of patients reproduced with permission retinoblastoma risk for colorectal sigmoidoscopy sporadic colorectal cancer surveillance tumour suppressor gene tumour types Turcot syndrome Vogelstein