Cowden syndrome
Cowden syndrome is associated with mutations in the PTEN gene and an increased risk for multiple malignancies including breast, thyroid and endometrial cancers. The risk of breast cancer in patients with PTEN mutations is approximately 25% - 50% throughout their lifetime while the risk of thyroid and endometrial cancers is approximately 10%. Cowden syndrome can also include multiple dermatologic findings, macrocephaly (large head size), and in some cases, brain abnormalities and reduced IQ.
Cowden syndrome is an autosomal dominant condition and genetic testing is available for this condition. Genetic testing for the PTEN gene is available on a clinical and research basis and can detect up to 80% of PTEN mutations in individuals with Cowden syndrome.
