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.

journal_name

Exp Dermatol

journal_title

Experimental dermatology

authors

Celebi JT,Ping XL,Zhang H,Remington T,Sulica VI,Tsou HC,Peacocke M

doi

10.1034/j.1600-0625.2000.009002152.x

subject

Has Abstract

pub_date

2000-04-01 00:00:00

pages

152-6

issue

2

eissn

0906-6705

issn

1600-0625

journal_volume

9

pub_type

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