Endocrine Abstracts

Cowden syndrome is an autosomal dominant disorder characterized by germline mutations in the PTEN tumour suppressor gene on 10q23.3 which mediates cell-cycle arrest and apoptosis. The diagnosis is primarily based on clinical findings including a combination of mucocutaneous lesions (trichilemmomas), macrocephaly, thyroid lesions (mainly follicular adenoma or carcinoma) and breast and endometrial cancer. The prevalence is estimated at 1/200 000. Lifetime risk for developing bre...