Abstract

Objectives: Endometrial cancer (EC) has been recognized as a major cancer component in Cowden syndrome (CS), which is classically associated with germline PTEN mutations. Germline SDHB/C/D (SDHx) variation and KLLN promoter methylation have been recently reported in CS and CS-like (CSL) patients. The aim of this study was to identify the prevalence and clinico-athologic features predictive of germline SDHx and KLLN alterations in CS and CSL patients with EC.

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