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Cowden Syndrome
A Guide for patients and their families

References and Credits

Sarah Burton, UI Health Care
Joy Larsen Haidle, MS, CGC, UI Health Care
Heather Hampel, MS, CGC, Ohio State University
Charis Eng, MD, PhD, Ohio State University

Peer Review Status: Internally reviewed by the authors
First Published:
Last Revised: April 2002

REFERENCES
  1. DiLiberti JH. Inherited macrocephaly-hamartoma syndromes. Am J Med Genet 1998: 79: 284-290
  2. Gorlin RJ, Cohen MM, Condon LM, Burke BA. Bannyan-Riley-Ruvalcaba sydrome. Am J Med Gent 1992: 44: 307-314
  3. Hampel H, Peltomaki P. Hereditary colorectal cancer: risk assessment and management. Clin Genet 2000: 57: 89-97
  4. International Cowden's Sydrome Consortium. Operational Criteria for the Diagnosis of CS. Daly, M. NCCN practice guidelines: Genetics/familial high-risk cancer screening. Oncology 1999; 13:161-86
  5. Jones, Kenneth Lyons. Smith's Recognizable Patterns of Human Malformation. 5th Ed., WB Sanders Co. 1997: 522-523
  6. Julide Tok Celebi, Hui C Tsou, Fei Fei Chen, Hong Zhang, Xiao Li Ping, Mark G Lebwohl, Jeffery Kezis, Monica Peacocke. Phenotypic findings of Cowden syndrome and Bannyan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet 1999: 36: 360-364
  7. Lindon, Noralane M., Green, Mark H. Mayo Family Cancer Program. The Concise Handbook of Family Cancer Syndromes. Journ. Nat. Cancer Instituite. 90:14: 1051-1052
  8. Marsh DJ, Kum JB, Lunetta KL et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannyan-Riley-Ruvalcaba syndrome suggest a single entity with cowden syndrome. Hum Mol. Genet 1999: 8: 1461-1472
  9. Eng C, Peacocke M. PTEN and inherited hamartoma-cancer-syndromes. Nat Genet 1998: 19: 233
  10. Lloyd KM, Denis M. Cowden's disease: A Possible new symptom complex with multiple system involvement. Ann Intern Med 1963: 58:136-142.
  11. Fargnoli MC, Orlow SJ, Semel-Concepcion J, Bolognia JL. Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba phenotype. J Med Genet 1998: 35:0-3.
  12. Marsh DJ, Coulon V, Lunetta KL, et. al. Mutation spectrum and genotype-phenotype analysis in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutations. Hum Mol Genet 1998: 7(3):507-15.
  13. Marsh DJ, Dahia PL, Zheng Z, et. al. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997: 16(4): 333-4.
  14. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000: 37(11): 828-30.
  15. Eng, C, Parsons, R. 1998. Cowden Syndrome In: Vogelstein, B nd Kinzler, KW editors. The Genetic Basis of Human Cancer. New York: McGraw-Hill. p 519-525.

CREDITS

Written by:

Sarah Burton, University of Iowa Health Care

Joy Larsen Haidle, MS, C.G.C, genetic counselor

Heather Hampel, MS, CGC, genetic counselor, Clinical Cancer Genetics Program and Division of Human Genetics, The Ohio State University

Charis Eng, MD, PhD, director, Clinical Cancer Genetics Program and Division of Human Genetics, The Ohio State University

Illustrations by Terry Demmer

Special Thanks to:
University of Iowa Health Care Division of Medical Genetics

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Last modification date: Mon Aug 7 13:10:21 2006
URL: http://www.uihealthcare.com /topics/medicaldepartments/cancercenter/cowden/references.html