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Concise Handbook of Familial Cancer Susceptibility Syndromes - Second Edition
Affiliations of authors: Department of Medical Genetics, Mayo Clinic, Rochester, MN (NML); Genetic Epidemiology Branch (MLM) and Clinical Genetics Branch (MHG), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD
Correspondence to: Noralane M. Lindor, MD, Mayo E7B, Department of Medical Genetics, Mayo Clinic, Rochester, MN 55902 (e-mail: nlindor@mayo.edu)
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Introduction |
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More than 10 years have passed since we first attempted to develop a clinically accessible catalog of recognizable family cancer syndromes (1). Our sense at that time was that we were on the brink of an avalanche of information regarding the inherited basis of human neoplasia and that the clinical consequences of these novel molecular insights threatened to overwhelm both health-care providers and their patients. We attempted to distill currently available data related to the most common genetically determined cancer susceptibility syndromes into a format that would make this arcane knowledge more readily accessible to busy clinicians who only occasionally needed this information. It seemed inevitable that, as the number of disorders for which germline mutation
References
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Disorders |
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1. Ataxia Telangiectasia (includes Ataxia Telangiectasia Complementation Groups A, C, D, E, Louis–Barr Syndrome)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Associated risks of heterozygous carriers of AT: Cancer risk management: Comments: References 2. Basal Cell Nevus Syndrome, Nevoid Basal Cell Carcinoma Syndrome, or Gorlin Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 3. Beckwith–Wiedemann Syndrome (Exomphalos–Macroglossia–Gigantism Syndrome)
OMIM number: Inheritance pattern: Genes and chromosomal location: Mutations: Incidence: Diagnosis: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 4. Birt–Hogg–Dubé Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 5. Bloom Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 6. Breast/Ovarian Cancer, Hereditary (BRCA1)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 7. Breast/Ovarian Cancer, Hereditary (BRCA2 )
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 8. Carney Complex, Types I and II (formerly known as NAME Syndrome [Nevi, Atrial Myxoma, Myxoid Neurofibromata, and Ephelides] and LAMB Syndrome [Lentigines, Atrial Myxomata, Mucocutaneous Myxoma, Blue Nevi])
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 9. Chordoma, Familial
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 10. Colon Cancer, Hereditary Nonpolyposis–Lynch Syndrome (includes Lynch Syndrome, Hereditary Mismatch Repair Deficiency Syndrome, Muir–Torre Syndrome, and a subset of Turcot Syndrome)
OMIM numbers: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 11. Costello Syndrome; Facio–Cutaneous–Skeletal Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 12. Cowden Syndrome (Multiple Hamartoma Syndrome; PTEN Hamartoma Tumor Syndrome)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 13. Dyskeratosis Congenita
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 14. Esophageal Cancer, Tylosis with; Keratosis Palmaris et Plantaris with Esophageal Cancer; Howel–Evans Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 15. Exostosis, Hereditary Multiple (includes Type 1, Type 2, Type 3, and Multiple Osteochondromas (Enchondromatosis)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 16. Fanconi Anemia
OMIM numbers: Inheritance pattern: Genes and chromosomal locations: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 17. Gastric Cancer, Hereditary Diffuse
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 18. Gastrointestinal Stromal Tumor; also Multiple Gastrointestinal Autonomic Nerve Tumors
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 19. Hyperparathyroidism, Familial (includes Familial Isolated Hyperparathyroidism and Familial Hyperparathyroidism with Multiple Ossifying Jaw Fibromas (aka Hereditary Hyperparathyroidism-Jaw Tumor Syndrome); Familial Cystic Parathyroid Adenomatosis)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 20. Leukemia, Acute Myeloid, Familial
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 21. Leukemia, Chronic Lymphocytic, Familial
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 22. Li–Fraumeni Syndrome, including Li-Fraumeni-Like Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 23. Lymphoma, Hodgkin, Familial
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 24. Lymphoma, Non-Hodgkin, Familial
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 25. Melanoma, Hereditary Multiple (includes Dysplastic Nevus Syndrome, Familial Atypical Mole–Malignant Melanoma Syndrome, Melanoma–Pancreatic Carcinoma Syndrome, Melanoma–Astrocytoma Syndrome, Familial Uveal Melanoma)
OMIM numbers: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 26. Mosaic Variegated Aneuploidy
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 27. Multiple Endocrine Neoplasia Type 1 (MEN1; Wermer Syndrome; includes Zollinger–Ellison [Z–E] Syndrome; also Multiple Endocrine Neoplasia Type 1B [MEN 1B] noted)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 28. Multiple Endocrine Neoplasia Type 2A, 2B (Sipple Syndrome), and Familial Medullary Thyroid Cancer
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 29. Multiple Myeloma, Familial
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 30. Neuroblastoma, Hereditary
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 31. Neurofibromatosis Type 1 (NF1; includes von Recklinghausen Disease)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 32. Neurofibromatosis Type 2 (sometimes called Central Neurofibromatosis or Bilateral Acoustic Neurofibromatosis)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 33. Nijmegen Breakage Syndrome (formerly called Ataxia Telangiectasia Variant or AT-V1; includes Berlin Breakage Syndrome, formerly called AT-V2)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 34. Pancreatic Cancer, Hereditary
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 35. Paraganglioma, Hereditary
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 36. Peutz–Jeghers Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 37. Polyposis, Familial Adenomatous (includes Gardner Syndrome, Familial Multicentric Fibromatosis and/or Hereditary Desmoid Disease, and a subset of Turcot Syndrome)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 38. Polyposis, Familial Juvenile (includes Hereditary Mixed Polyposis Types 1 and 2)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 39. Polyposis, MYH-Associated (MAP)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 40. Prostate Cancer, Hereditary
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 41. Renal Cell Carcinoma, Hereditary, with Multiple Cutaneous and Uterine Leiomyomas (HLRCC; Reed Syndrome)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 42. Renal Cell Carcinoma, Hereditary (used here to apply only to Familial Nonpapillary, Clear Cell or Conventional Cell, or Clear Cell Adenocarcinoma of the Kidney)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 43. Renal Cell Carcinoma, Hereditary Papillary
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 44. Retinoblastoma, Hereditary
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 45. Rhabdoid Predisposition Syndrome (includes Brain Tumors in Infancy, Familial Posterior Fossa Tumors, and Renal Rhabdoid Tumors)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 46. Rothmund–Thomson Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 47. Simpson–Golabi–Behmel Syndrome (SGBS)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 48. Testicular Germ Cell Tumor, Familial
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 49. Thyroid Carcinoma, Familial Non-medullary (includes Papillary Thyroid Carcinoma with Papillary Renal Neoplasia)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 50. Tuberous Sclerosis Complex
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 51. von Hippel–Lindau Syndrome
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 52. Waldenström Macroglobulinemia, Familial
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References 53. Werner Syndrome (includes Adult Progeria)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comment: References 54. Wilms Tumor, Familial (excludes Beckwith–Weidemann Syndrome and Other Overgrowth Syndromes)
OMIM number: Inheritance pattern: Gene and chromosomal location: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: References 55. Xeroderma Pigmentosum (DeSanctis–Cacchione Syndrome; includes Complementation Groups A–G and XP Variant)
OMIM numbers and genes and chromosomal locations: Inheritance pattern: Mutations: Incidence: Diagnosis: Laboratory features: Associated malignant neoplasms: Associated benign neoplasms: Cancer risk management: Comments: References
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Funding |
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Appendix 1:. Clinical Cancer Genetics Resources for the Busy Health-Care Practitioner |
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National Cancer Institute Cancer Genetics Homepage
Glossaries of Genetic Terms: Directory of Cancer Genetics Professionals: NCI's PDQ Cancer Genetics Information Summaries: Links to Official Policy Statements Regarding Cancer Genetic Issues: National Center for Biotechnology Information
Online Mendelian Inheritance in Man (OMIM): Genes and Disease: National Library of Medicine Genetics Home Reference: Miscellaneous Resources
GeneTests (University of Washington): National Human Genome Research Institute: National Society of Genetic Counselors: CDC (Centers for Disease Control) Office of Genomics and Disease Prevention:
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