Journal of Genetic Counseling

, Volume 18, Issue 1, pp 13–27

Cowden Syndrome: A Critical Review of the Clinical Literature


DOI: 10.1007/s10897-008-9187-7

Cite this article as:
Pilarski, R. J Genet Counsel (2009) 18: 13. doi:10.1007/s10897-008-9187-7


Cowden syndrome (CS) is a multi-system disease involving hamartomatous overgrowth of tissues of all three embryonic origins and increased risks for thyroid, breast and possibly other cancers. Benign breast, thyroid, uterine and skin lesions are also common. Approximately 80% of patients with CS have an identifiable germline mutation in the PTEN gene. The majority of the existing data on the frequencies of component clinical features have been obtained from compilations of case reports in the literature, many of which predate the establishment in 1996 of consensus diagnostic criteria. Many of these reports also suffer from ascertainment bias which emphasized the dermatologic features of the disease. This paper presents an overview of Cowden syndrome focusing on a critical evaluation of the major literature on the component cancers, benign features, and molecular findings in CS, noting the limitations of the published data.


Cowden syndrome PTEN PTEN hamartoma tumor syndrome PHTS 

Copyright information

© National Society of Genetic Counselors, Inc. 2008

Authors and Affiliations

  1. 1.Division of Human Genetics, Department of Internal Medicine and Clinical Cancer Genetics Program, Comprehensive Cancer Center, James Cancer Hospital and Solove Research InstituteOhio State UniversityColumbusUSA
  2. 2.Clinical Cancer Genetics ProgramOhio State UniversityColumbusUSA

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