PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome (PHTS) is a spectrum of disorders caused by mutations in the PTEN gene, a tumor suppressor that regulates cell growth. PHTS encompasses several previously separate conditions including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and PTEN-related Proteus syndrome. These conditions share features of hamartoma development and increased cancer risk.

Cowden syndrome, the most common PHTS presentation, is characterized by multiple hamartomas (benign tumor-like growths) affecting various organs, along with significantly increased lifetime risks for certain cancers. Breast cancer risk is 25-50%, thyroid cancer risk is 10-35%, and endometrial cancer risk is 20-30%. Kidney cancer, colorectal cancer, and melanoma risks are also elevated.

Common benign features include trichilemmomas (facial skin growths), papillomatous papules (cobblestone-like skin texture), macrocephaly (enlarged head), thyroid nodules, breast fibroadenomas, and intestinal polyps. These features often appear by young adulthood and increase with age. The combination of mucocutaneous features is often pathognomonic.

PHTS is caused by germline mutations in the PTEN gene and is inherited in an autosomal dominant pattern. The PTEN protein normally inhibits the PI3K/AKT signaling pathway; when it's absent or nonfunctional, this pathway becomes overactive, promoting cell proliferation and survival. Management focuses on intensive cancer screening starting at age 18-25, including annual breast MRI, thyroid ultrasound, colonoscopy, and kidney imaging.

NutraHacker examines the following gene related to PTEN Hamartoma Tumor Syndrome:

• PTEN

For more information about your own genetic profile as related to PTEN Hamartoma Tumor Syndrome, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload whole genome sequencing data and find out more about your critical genetics today.