Many hereditary cancer syndromes are linked to alterations in single genes. Detection and clinical interpretation of these alterations can guide cancer risk reduction for patients and their families through screening, prophylactic measures, and other strategies. Diagnosis and Management of Hereditary Cancer summarizes hereditary syndromes and their associated cancers and genes. The information is presented in 50 practice-enhancing tables that relate clinical, genetic, diagnostic, and management aspects in a manner that has previously not been available in a single reference. Intended to guide the specialist as well the novice, this volume will elevate the care of hereditary cancer patients and their families.
1. Introduction - p. xiv 2. Section A: Genetics - p. xiv 3. Table 1. Concepts in hereditary cancer genetics - p. 3 4. Table 2. Genetic alterations in hereditary cancer - p. 13 5. Section B: Genetics testing - p. 35 6. Table 3. Genetic counseling considerations - p. 39 7. Table 4. Genetic testing—constitutional - p. 43 8. Table 5. Genetic testing—tumor - p. 49 9. Table 6. DNA sources for genetic testing - p. 53 10. Table 7. Variant annotation - p. 57 11. Table 8. Analysis of a detected alteration - p. 63 12. Table 9. ACMG evidence of pathogenicity - p. 67 13. Table 10. ACMG rules for variant classification - p. 71 14. Table 11. Oncogenes in hereditary cancers - p. 73 15. Table 12. Autosomal recessive hereditary cancers - p. 77 16. Table 13. Autosomal recessive, nonneoplastic hereditary conditions from cancer genes - p. 81 17. Table 14. Digenic modifiers, contiguous genes, and phenocopies - p. 85 18. Table 15. Mechanisms of phenotypic variability - p. 89 19. Table 16. Pseudogenes of cancer susceptibility genes - p. 93 20. Section C: Clinical features - p. 96 21. Table 17. Red flags suggesting hereditary cancer - p. 99 22. Table 18. Key issues in eliciting and evaluating family histories - p. 105 23. Table 19. Pedigree symbols—Common symbols and definitions - p. 109 24. Table 20. Pedigree symbols—Line definitions - p. 113 25. Table 21. Pedigree symbols—evaluation and testing information - p. 115 26. Table 22. Physical examination—body region (Cephalad to Caudad) - p. 118 27. Table 23. Physical examination—syndrome - p. 129 28. Table 24. Risk estimation models - p. 139 29. Table 25. Screening, surveillance, and diagnostic tests for cancer - p. 145 30. Table 26. Physiologic imaging tests for PCC/PGL/neuroendocrine tumors - p. 155 31. Table 27. Management of known alterations - p. 161 32. Section D: Tumors—Syndromes—Genes - p. 164 33. Table 28. Tumors, syndromes, genes - p. 167 34. Table 29. Syndromes, tumors, genes - p. 182 35. Table 30. Genes, tumors, syndromes - p. 193 36. Table 31. Colorectal polyp types with associated syndromes - p. 205 37. Table 32. Genes—reference data - p. 209 38. Section E: Classic hereditary cancer syndromes - p. 255 39. Table 33. APC-associated polyposis hereditary conditions - p. 259 40. Table 34. Birt–Hogg–Dubé syndrome - p. 263 41. Table 35. Cowden syndrome/PHTS - p. 265 42. Table 36. Gorlin syndrome (Nevoid basal cell carcinoma syndrome) - p. 269 43. Table 37. Hereditary breast and ovarian cancers - p. 273 44. Table 38. Hereditary leiomyoma and renal cell carcinoma (HLRCC) - p. 277 45. Table 39. Hereditary pheochromocytoma/paraganglioma (PCC/PGL; HNPGL) - p. 279 46. Table 40. Li–Fraumeni syndrome - p. 285 47. Table 41. Lynch syndrome - p. 289 48. Table 42. Multiple endocrine neoplasia type 1 - p. 293 49. Table 43. Multiple endocrine neoplasia type 2 - p. 297 50. Table 44. MUTYH-associated polyposis (MAP) - p. 301 51. Table 45. Neurofibromatosis type 1 - p. 305 52. Table 46. Neurofibromatosis type 2 - p. 309 53. Table 47. Peutz–Jeghers syndrome - p. 313 54. Table 48. Retinoblastoma - p. 315 55. Table 49. Tuberous sclerosis complex - p. 319 56. Table 50. Von Hippel–Lindau syndrome - p. 323 57. Patient care plans - p. 327 58. Information sources - p. 348 59. Acknowledgments - p. 349 60. Index - p. 361 61. Index of Genes - p. 367
Many hereditary cancer syndromes are linked to alterations in single genes. Detection and clinical interpretation of these alterations can guide cancer risk reduction for patients and their families through screening, prophylactic measures, and other strategies. Diagnosis and Management of Hereditary Cancer summarizes hereditary syndromes and their associated cancers and genes. The information is presented in 50 practice-enhancing tables that relate clinical, genetic, diagnostic, and management aspects in a manner that has previously not been available in a single reference. Intended to guide the specialist as well the novice, this volume will elevate the care of hereditary cancer patients and their families.
1. Introduction - p. xiv 2. Section A: Genetics - p. xiv 3. Table 1. Concepts in hereditary cancer genetics - p. 3 4. Table 2. Genetic alterations in hereditary cancer - p. 13 5. Section B: Genetics testing - p. 35 6. Table 3. Genetic counseling considerations - p. 39 7. Table 4. Genetic testing—constitutional - p. 43 8. Table 5. Genetic testing—tumor - p. 49 9. Table 6. DNA sources for genetic testing - p. 53 10. Table 7. Variant annotation - p. 57 11. Table 8. Analysis of a detected alteration - p. 63 12. Table 9. ACMG evidence of pathogenicity - p. 67 13. Table 10. ACMG rules for variant classification - p. 71 14. Table 11. Oncogenes in hereditary cancers - p. 73 15. Table 12. Autosomal recessive hereditary cancers - p. 77 16. Table 13. Autosomal recessive, nonneoplastic hereditary conditions from cancer genes - p. 81 17. Table 14. Digenic modifiers, contiguous genes, and phenocopies - p. 85 18. Table 15. Mechanisms of phenotypic variability - p. 89 19. Table 16. Pseudogenes of cancer susceptibility genes - p. 93 20. Section C: Clinical features - p. 96 21. Table 17. Red flags suggesting hereditary cancer - p. 99 22. Table 18. Key issues in eliciting and evaluating family histories - p. 105 23. Table 19. Pedigree symbols—Common symbols and definitions - p. 109 24. Table 20. Pedigree symbols—Line definitions - p. 113 25. Table 21. Pedigree symbols—evaluation and testing information - p. 115 26. Table 22. Physical examination—body region (Cephalad to Caudad) - p. 118 27. Table 23. Physical examination—syndrome - p. 129 28. Table 24. Risk estimation models - p. 139 29. Table 25. Screening, surveillance, and diagnostic tests for cancer - p. 145 30. Table 26. Physiologic imaging tests for PCC/PGL/neuroendocrine tumors - p. 155 31. Table 27. Management of known alterations - p. 161 32. Section D: Tumors—Syndromes—Genes - p. 164 33. Table 28. Tumors, syndromes, genes - p. 167 34. Table 29. Syndromes, tumors, genes - p. 182 35. Table 30. Genes, tumors, syndromes - p. 193 36. Table 31. Colorectal polyp types with associated syndromes - p. 205 37. Table 32. Genes—reference data - p. 209 38. Section E: Classic hereditary cancer syndromes - p. 255 39. Table 33. APC-associated polyposis hereditary conditions - p. 259 40. Table 34. Birt–Hogg–Dubé syndrome - p. 263 41. Table 35. Cowden syndrome/PHTS - p. 265 42. Table 36. Gorlin syndrome (Nevoid basal cell carcinoma syndrome) - p. 269 43. Table 37. Hereditary breast and ovarian cancers - p. 273 44. Table 38. Hereditary leiomyoma and renal cell carcinoma (HLRCC) - p. 277 45. Table 39. Hereditary pheochromocytoma/paraganglioma (PCC/PGL; HNPGL) - p. 279 46. Table 40. Li–Fraumeni syndrome - p. 285 47. Table 41. Lynch syndrome - p. 289 48. Table 42. Multiple endocrine neoplasia type 1 - p. 293 49. Table 43. Multiple endocrine neoplasia type 2 - p. 297 50. Table 44. MUTYH-associated polyposis (MAP) - p. 301 51. Table 45. Neurofibromatosis type 1 - p. 305 52. Table 46. Neurofibromatosis type 2 - p. 309 53. Table 47. Peutz–Jeghers syndrome - p. 313 54. Table 48. Retinoblastoma - p. 315 55. Table 49. Tuberous sclerosis complex - p. 319 56. Table 50. Von Hippel–Lindau syndrome - p. 323 57. Patient care plans - p. 327 58. Information sources - p. 348 59. Acknowledgments - p. 349 60. Index - p. 361 61. Index of Genes - p. 367
