PTEN is a tumor-suppressor gene involved in regulating cell growth, and pathogenic variants (disease-causing) cause PTEN hamartoma tumor syndrome (PHTS), a condition associated with elevated risks for breast cancer, thyroid cancer (especially follicular), endometrial cancer, kidney cancer, colorectal cancer, melanoma, and characteristic benign findings such as macrocephaly (large head size), mucocutaneous lesions (growths on the face and lips), and hamartomatous growths (benign tumors). Management focuses on proactive, lifelong surveillance tailored to the organ systems at risk, including early and regular breast, thyroid, endometrial, kidney, and colon screening, along with monitoring for benign manifestations that may require dermatologic, endocrine, or neurologic evaluation. PHTS are not known to be more common in the Ashkenazi Jewish population.
PHTS exhibits autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
Another name this condition is called Cowden syndrome.
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Written December 2025
