Germline PTEN mutations in three families with Cowden syndrome

Autor:	J T, Celebi, X L, Ping, H, Zhang, T, Remington, V I, Sulica, H C, Tsou, M, Peacocke
Rok vydání:	2000
Předmět:	Adult Male Tumor Suppressor Proteins PTEN Phosphohydrolase DNA Middle Aged Phosphoric Monoester Hydrolases Amino Acid Substitution DNA Transposable Elements Humans Female Frameshift Mutation Hamartoma Syndrome Multiple Germ-Line Mutation
Zdroj:	Experimental dermatology. 9(2)
ISSN:	0906-6705
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::04c0b813fed8e5485b85ced1bcfa4d19 https://pubmed.ncbi.nlm.nih.gov/10772390 Zobrazit plný text záznamu Plný text ve formátu PDF