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Cowden Syndrome

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Associated Genetic Biomarkers

Overview

NCI Definition: An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum. [1]

Clinical Trials

View Clinical Trials for Cowden Syndrome

Significant Genes in Cowden Syndrome

PTEN +

Disease Details

Synonyms
Cowden Disease, PTEN Hamartoma Syndrome, Multiple Hamartoma Syndrome, Cowden's Disease
Parent(s)
Hereditary Neoplastic Syndrome

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.