Abstract:PTEN negatively regulates the Class I PI 3-kinases by metabolizing phosphatidylinositol(3,4,5)trisphosphate (PIP3) and acts as a tumor suppressor. Heterozygous germline PTEN mutations in humans manifest into a complex multiorgan disorder known as PTEN hamartoma tumor syndrome (PHTS). Patients present with hamartomatous skin lesions, benign GI polyps, have an increased risk of developing certain types of cancer (breast, colon, endometrium, thyroid, GI tract and kidney) and have macrocephaly and autism spectrum … Show more
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