Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome

J Surg Oncol. 2015 Jan;111(1):125-30. doi: 10.1002/jso.23735. Epub 2014 Aug 11.


Cowden syndrome (CS) is an autosomal dominant hereditary cancer syndrome causing increased risk for breast, thyroid, renal, uterine, and other cancers as well as benign neoplasias and neurodevelopmental concerns. Timely diagnosis of affected patients is key, as early recognition allows for high-risk screening and other preventative measures prior to a patient enduring multiple cancer diagnoses. This review will highlight the cardinal features of CS and management recommendations for affected patients.

Keywords: (3-5); PTEN hamartoma tumor syndrome; cowden syndrome; hereditary cancer syndromes.

Publication types

  • Review

MeSH terms

  • Hamartoma Syndrome, Multiple / diagnosis*
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / therapy*
  • Humans
  • Mutation / genetics
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / therapy*
  • PTEN Phosphohydrolase / genetics


  • PTEN Phosphohydrolase
  • PTEN protein, human