title: Germline PTEN mutations in three families with Cowden syndrome.
abstract: Cowden syndrome (CS) is an autosomal dominant inherited disorder characterized by hamartomas in a variety of tissues including the skin, thyroid, breast, endometrium, and the brain. Individuals with CS are predisposed to development of malignancy in these organs, especially the breast and the thyroid. We describe 3 unrelated individuals with CS associated with germline PTEN mutations. While the frameshift (375insTTTA) and the missense (Gly69Arg) mutations reported herein are novel in CS, the nonsense (Arg130stop) mutation has been described in 2 families with CS and in a single family exhibiting both CS and Bannayan Zonana phenotype.
authors.affiliation: Department of Dermatology, Columbia University, College of Physicians & Surgeons, New York, NY 10032, USA.
authors.forename: J T
authors.initials: JT
authors.lastname: Celebi
authors.forename: X L
authors.initials: XL
authors.lastname: Ping
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: T
authors.initials: T
authors.lastname: Remington
authors.forename: V I
authors.initials: VI
authors.lastname: Sulica
authors.forename: H C
authors.initials: HC
authors.lastname: Tsou
authors.forename: M
authors.initials: M
authors.lastname: Peacocke
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004247:DNA / Q000235:genetics; D004251:DNA Transposable Elements; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D004251:DNA Transposable Elements; D025521:Tumor Suppressor Proteins; D004247:DNA; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human