A De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome—A Case Report

A De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome—A Case Report

Cowden syndrome (CS) is a rare hereditary disorder characterized by benign overgrowth in various tissues and a high risk of breast and thyroid cancer. CS is closely associated with pathogenic variants (PVs) in the phosphatase and tensin homolog (<i>PTEN</i>) tumor suppressor gene. PVs in...

Full description

Saved in:
Bibliographic Details
Main Authors: Paulina Gebhart, Christian Singer, Daniela Muhr, Christina Stein, Yen Y. Tan
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:Pediatric Reports
Subjects:
PTEN
hereditary cancer syndrome
genetic testing
cancer screening
Online Access:https://www.mdpi.com/2036-7503/17/3/54
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items