Genetic Disorder Reference Sheet: PTEN Hamartoma Tumor Syndrome
Suzanne M. Mahon, RN, DNSc, AOCN®, AGN-BC
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Description
Alterations in the phosphatase and tensin (PTEN) homologue gene result in PTEN hamartoma tumor syndrome, which includes Cowden, Bannayan-Riley-Ruvalcaba, and PTEN-related Proteus and Proteus-like syndromes. Pathogenic variants in the PTEN gene are associated with increased risk for developing multiple benign and malignant tumors, some of which may occur in childhood.