This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database.

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PTEN Hamartoma Tumor Syndrome (PHTS) encompasses Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and Proteus syndrome (PS), which have phenotypic overlap that includes hamartomatous tumors. PHTS has been estimated to affect 1 in 200,000 people worldwide. PHTS is caused by sequence variants in the tumor suppressor phosphatase and tensin homolog (PTEN) gene. PHTS is inherited in an autosomal dominant manner with > 200 pathogenic sequence variants described to date.