Hereditary Cancer Syndromes, An Issue of Surgical Clinics (The Clinics: Surgery)

Cover......Page 1
Foreword......Page 2
Preface......Page 4
Cancer Genetics: A Primer for Surgeons......Page 5
Cancer genes......Page 6
Carcinogenesis......Page 7
Stem cells......Page 10
Monoclonal theory......Page 11
Cancer stem cell hypothesis......Page 12
Types of mutation......Page 13
Genetic instability......Page 14
Chromosomal instability......Page 15
Nucleotide instability......Page 16
Gene amplification......Page 17
Oncogenes......Page 18
Receptor protein tyrosine kinases as oncogenes......Page 19
Nuclear proteins as oncogenes......Page 20
Tumor suppressor genes......Page 21
Transcriptional factors as tumor suppressor genes......Page 22
Receptor tumor suppressor genes......Page 23
Epigenetics......Page 24
Summary......Page 25
References......Page 26
Establishing a differential diagnosis......Page 29
When should genetic testing be considered?......Page 34
Genetic education and counseling......Page 35
Genetic education, counseling, and testing in children......Page 37
Selecting the testing laboratory......Page 38
Interpretation of test results......Page 39
Summary......Page 42
References......Page 43
The Genetic Information Nondiscrimination Act: Why Your Personal Genetics are Still Vulnerable to Discrimination......Page 46
Genetic testing: advantages and challenges......Page 47
Genetic discrimination: how pervasive is it?......Page 48
Genetic discrimination: implications for America’s public health and scientific research......Page 49
Genetic discrimination: the need for federal legislation......Page 50
Title I-health insurers......Page 52
Title II-employers......Page 53
The US House of Representatives......Page 54
The White House......Page 55
Opponents......Page 56
The genetic information nondiscrimination act: refuting the opposition......Page 57
Genetic information protection: the road ahead......Page 59
References......Page 60
Familial adenomatous polyposis......Page 62
Genetic testing......Page 64
Approach to patient......Page 65
Surgical management......Page 67
Surgical management......Page 71
Hereditary nonpolyposis colorectal cancer......Page 72
Surgical management......Page 73
Genetics......Page 74
Summary......Page 75
References......Page 76
Hereditary Diffuse Gastric Cancer: Prophylactic Surgical Oncology Implications......Page 82
The identification of unaffected CDH1 mutation carriers......Page 83
Inadequacies of screening for diffuse gastric cancer......Page 85
Preoperative evaluation......Page 87
Discussion......Page 88
Genetic counseling......Page 89
Prophylactic total gastrectomy: benefits and complications......Page 91
Prophylactic total gastrectomy: surgical complications......Page 93
Sentinel node mapping......Page 95
Lobular carcinoma of the breast in families that have hereditary diffuse gastric cancer......Page 97
References......Page 98
History......Page 102
Associated anomalies......Page 103
Histopathology......Page 105
Gastric cancer......Page 106
Management......Page 107
Genetics......Page 109
History......Page 110
Clinical features......Page 111
Colorectal......Page 112
Gastric and small bowel......Page 114
Pancreatic and gallbladder cancer......Page 115
Management......Page 116
Counseling......Page 118
Clinical features......Page 119
Cancer predisposition......Page 120
Genetics......Page 121
Counseling......Page 122
History......Page 123
Clinical features......Page 124
Associated anomalies......Page 126
Familial adenomatous polyposis......Page 141
Clinical features......Page 142
Genetics and diagnosis......Page 145
Screening/surveillance......Page 147
Surgery-colon and rectum......Page 148
Surgery-duodenum......Page 149
Nonsurgical management......Page 150
Lynch syndrome (hereditary nonpolyposis colon cancer)......Page 151
Genetics and diagnosis......Page 153
Cancer surveillance......Page 157
Surgical management......Page 158
Nonsurgical management......Page 159
Summary......Page 160
References......Page 161
Management of Women Who Have a Genetic Predisposition for Breast Cancer......Page 167
Hereditary breast and ovarian cancer syndrome......Page 168
Genetic testing......Page 170
Screening......Page 171
Prophylactic surgery......Page 175
Chemoprevention......Page 177
Breast cancer treatment......Page 178
Summary......Page 179
References......Page 180
Multiple Endocrine Neoplasia Syndromes......Page 184
Overview......Page 186
Risk assessment and surveillance......Page 187
Parathyroid tumors......Page 188
Pituitary tumors......Page 189
Pancreatic and duodenal tumors......Page 190
Other manifestations of multiple endocrine neoplasia type 1......Page 193
Multiple endocrine neoplasia subtype 2A......Page 194
Multiple endocrine neoplasia subtype 2B......Page 195
Familial medullary thyroid carcinoma......Page 196
Medullary thyroid carcinoma......Page 197
Pheochromocytoma......Page 200
Overview......Page 201
Parathyroid disease......Page 202
Pheochromocytoma and paraganglioma......Page 203
Von Hippel-Lindau syndrome......Page 204
Familial paraganglioma syndromes......Page 205
Nonmedullary thyroid cancer......Page 206
Cowden syndrome......Page 207
Familial adenomatous polyposis......Page 208
Carney complex......Page 209
Summary......Page 210
References......Page 211
Environmental risk factors......Page 217
Familial melanoma......Page 218
CDKN2A......Page 220
Risk of melanoma and of other cancers in melanoma families that have germline CDKN2A mutations......Page 223
Gene testing in familial melanoma......Page 225
Primary prevention of cutaneous malignant melanoma......Page 226
Secondary prevention of cutaneous malignant melanoma......Page 227
Low-penetrance risk-modifying genes: MC1R and OCA2......Page 229
Other inherited syndromes associated with increased risk for cutaneous malignant melanoma......Page 230
Summary......Page 231
References......Page 232