Cowden Syndrome

Common Name(s)

Cowden Syndrome, Cowden's Disease

Cowden syndrome is an inherited disorder characterized by multiple noncancerous, tumor-like growths called hamartomas on various areas of the body. Affected individuals are at an increased risk of developing certain cancers, especially cancer of the breast, thyroid or endometrium (lining the uterus). Cowden syndrome is caused by mutations in the PTEN, SDHB, SDHD, and KLLN  genes. This condition is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cowden Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cowden Syndrome" returned 46 free, full-text research articles on human participants. First 3 results:

Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
 

Author(s): Xin He, Nicholas Arrotta, Deepa Radhakrishnan, Yu Wang, Todd Romigh, Charis Eng

Journal: Cancer Res.. 2013 May;73(10):3029-40.

 

Germline mutations in PTEN have been described in a spectrum of syndromes that are collectively known as PTEN hamartoma tumor syndrome (PHTS). In addition to being mutated in the germline in PHTS, somatic loss-of-function PTEN mutations are seen in a wide range of sporadic human tumors. ...

Last Updated: 14 May 2013

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Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer.
 

Author(s): Asli Kalin, Melissa A Merideth, Debra S Regier, Gideon M Blumenthal, Phillip A Dennis, Pamela Stratton

Journal: Obstet Gynecol. 2013 Feb;121(2 Pt 2 Suppl 1):461-4.

 

Cowden syndrome is an autosomal-dominant condition associated with mutations in the tumor suppressor gene PTEN. Gynecologic malignancies are common with a 5-10% risk of endometrial cancer and 25-50% risk of breast cancer.

Last Updated: 24 Jan 2013

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PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome.
 

Author(s): Xin He, Motoyasu Saji, Deepa Radhakrishnan, Todd Romigh, Joanne Ngeow, Qi Yu, Yu Wang, Matthew D Ringel, Charis Eng

Journal: J. Clin. Endocrinol. Metab.. 2012 Nov;97(11):E2179-87.

 

Germline mutations in PTEN are associated with phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartoma tumor syndrome including Cowden syndrome (CS) and Cowden-like syndrome (CSL) that predisposes to high risks of benign and malignant tumors of thyroid and breast.

Last Updated: 6 Nov 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cowden Syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Cowden Syndrome: report of a case and brief review of literature.
 

Author(s): Ana Carolina Souza Porto, Elisabeth Roider, Thomas Ruzicka

Journal: An Bras Dermatol. ;88(6 Suppl 1):52-5.

 

We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN ...

Last Updated: 18 Dec 2013

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Last Updated: 3 May 2004

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Cowden syndrome.
 

Author(s): A M Hanssen, J P Fryns

Journal: J. Med. Genet.. 1995 Feb;32(2):117-9.

 

Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important ...

Last Updated: 28 Jun 1995

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
 

Status: Recruiting

Condition Summary: Familial Ovarian Cancer; Familial Breast Cancer; BRCA1-associate Malignancies; BRCA2-associated Malignancies

 

Last Updated: 21 Jun 2014

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