Genetic basis of Cowden syndrome and its implications for clinical practice and risk management
Amanda Gammon,1 Kory Jasperson,1,2 Marjan Gammon1
1Huntsman Cancer Institute Family Cancer Assessment Clinic Salt Lake City, UT, USA; 2Ambry Genetics Medical Affairs Aliso Viejo, CA USA
Abstract: Cowden syndrome (CS) is an often difficult to recognize hereditary cancer predisposition syndrome caused by mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN). In addition to conferring increased cancer risks, CS also predisposes individuals to developing hamartomatous growths in many areas of the body. Due to the rarity of CS, estimates vary on the penetrance of certain phenotypic features, such as macrocephaly and skin findings (trichilemmomas, mucocutaneous papules), as well as the conferred lifetime cancer risks. To address this variability, separate clinical diagnostic criteria and PTEN testing guidelines have been created to assist clinicians in the diagnosis of CS. As knowledge of CS increases, making larger studies of affected patients possible, these criteria continue to be refined. Similarly, the management guidelines for cancer screening and risk reduction in patients with CS continue to be updated. This review will summarize the current literature on CS to assist clinicians in staying abreast of recent advances in CS knowledge, diagnostic approaches, and management.
Keywords: Cowden syndrome, PTEN gene, hereditary cancer, genetic counseling
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