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Article

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

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012

Lima Erika U de, Soares Iberê C, Danilovic Debora L S, Marui Suemi

Abstract excerpt

Cowden 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...

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Source

Identifiers

PMID: 23295304
DOI: 10.1590/s0004-27302012000800022

Genes

PTEN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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