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Germline PTEN mutations in three families with Cowden syndrome
Author(s) -
Çelebi J. T.,
Ping X. L.,
Zhang H.,
Remington T.,
Sulica V. I.,
Tsou H. C.,
Peacocke M.
Publication year - 2000
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1034/j.1600-0625.2000.009002152.x
Subject(s) - cowden syndrome , pten , missense mutation , frameshift mutation , germline , nonsense mutation , germline mutation , medicine , cancer research , genetics , phenotype , thyroid , mutation , biology , pi3k/akt/mtor pathway , gene , apoptosis
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.