Cowden syndrome is a multiorgan system disorder, requiring focused clinical surveillance and regular follow-up. Genetic screening to identify germline PTEN mutations is now available and can direct the clinical management of this condition, including family-planning decisions. A number of molecules in the PI3-K pathway in which PTEN functions are currently attracting attention as potential drug targets that may influence future therapies for patients with germline PTEN mutation, as well as those with sporadic cancers shown to have PTEN involvement.

Online information specifically for patients with CS is available (Burton S, Haidle JL, Hampel H and Eng C: Cowden syndrome. A guide for patients and their families, cancercenter/cowden/). Additional detailed reviews recommended for further reading on this subject include Refs. [23,24].

Genetic Screening

Who should undergo genetic screening for Cowden syndrome?

Genetic counseling and predictive mutation testing should be offered to all at-risk members of a family with CS as part of their clinical management. As CS is an autosomal dominant condition, children of an affected parent have a 50% chance of inheriting a PTEN mutation. Cancer surveillance is indicated only for patients with a germline PTEN mutation.

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