Disase Detail : MGeND

Information

Disease name: Cowden syndrome
Disease ID: DOID:6457
Description: "A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium." [url:http\://en.wikipedia.org/wiki/Cowden_syndrome, url:http\://ghr.nlm.nih.gov/condition/cowden-syndrome, url:http\://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1]

Disease area statistics

Chromosome band

Gene symbol	Chromosome	Start	Stop	The number of variant
CHEK2	22	28,687,763	28,741,838	4
PTEN	10	87,863,625	87,971,930	2
TGFBR2	3	30,606,601	30,694,142	2

Annotation

Genes	Mutation	Description	Source	Links

NCT ID	Status	Phase	Summary	Start date	Completion date
NCT04094675	Active, not recruiting	Phase 2	Sirolimus for Cowden Syndrome With Colon Polyposis	September 16, 2019	February 2025
NCT00600275	Completed	Phase 1/Phase 2	A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer	December 2007
NCT00620594	Completed	Phase 1	A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer	December 21, 2006	January 8, 2013
NCT03702309	Recruiting		Liquid Biopsy Evaluation and Repository Development at Princess Margaret	August 3, 2017	July 6, 2024
NCT06163365	Recruiting		Inherited Cancer Early Diagnosis (ICED) Study	July 26, 2022	July 26, 2025

Cowden syndrome