New mutation in the PTEN gene in a Brazilian patient with Cowden's syndrome

Abstract

SUMMARYCowden syndrome is characterized by hamartomatous polyps, trichilemmomas, increased risk of developing neoplasms, and is associated with germline mutations in the PTEN gene. We searched for germline mutations in PTEN in a 49-year-old female patient who presented trichilemmoma with previous history of breast carcinoma, and thyroidectomy for a thyroid nodule. We also searched for somatic mutations in breast and thyroid tumoral tissues. DNA was extrac ted from peripheral leukocytes, paraffin samples of bre…