Cowden syndrome is classically associated with mutations in the phosphatase and tensin homolog (PTEN) gene on chromosome 10q22–23, although variants in several other genes have been described in patients without PTEN mutations (SDHB-D, SEC23B, KLLN, PARP4, AKT1, PIK3CA, USF3, TTN, MUTYH, RET, TSC2, BRCA1, BRCA2, ERCC2, HRAS, and RASAL1) [19,30,31,32]. This evidence concerns the gene AKT1 and Cowden disease.