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

This issue of the Surgical Clinics on Familial Cancer Syndromes will cover the following topics: cancer genetics; genetic testing for cancer susceptibility; genetic testing and privacy, employment, and insurance coverage; hereditary diffuse gastric cancer, hamartomatous polyposis syndromes, hereditary non-polyposis coli and familial adenomatous polyposis coli syndromes; management of hereditary breast cancer; multiple endocrine neoplasias; familial melanoma; the emerging role of prophylactic surgery in cancer prevention. 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 Cancer genetics : a primer for surgeons / John R. Benson and Siong-Seng Liau Genetic testing for cancer susceptibility / Kathleen A. Calzone and Peter W. Soballe The genetic information nondiscrimination act : why your personal genetics are still vulnerable to discrimination / Louise M. Slaughter An overview of the role of prophylactic surgery in the management of individuals with a hereditary cancer predisposition / Tawakalitu Oseni and Ismail Jatoi Hereditary diffuse gastric cancer : prophylactic surgical oncology implications / Henry T. Lynch ... [et al.] Hamartomatous polyposis syndromes / Daniel Calva and James R. Howe Hereditary colorectal cancer syndromes : familial adenomatous polyposis and Lynch syndrome / Wigdan Al-Sukhni, Melyssa Aronson, and Steven Gallinger Management of women who have a genetic predisposition for breast cancer / Ismail Jatoi and William F. Anderson Multiple endocrine neoplasia syndromes / Glenda A. Callender, Thereasa A. Rich, and Nancy D. Perrier Familial melanoma / Johan Hansson. Covers the following topics: cancer genetics; genetic testing for cancer susceptibility; genetic testing and privacy, employment, and insurance coverage; hereditary diffuse gastric cancer, hamartomatous polyposis syndromes, hereditary non-polyposis coli and familial adenomatous polyposis coli syndromes; and, management of hereditary breast cancer.