Cowden syndrome

Common Name(s)

Cowden syndrome, Cowden's disease

Cowden syndrome (CS) is a genetic condition that causes non-cancerous (benign) tumor-like growths and an increased risk of certain types of cancer. The growths, called hamartomas, are usually found on the skin, as well as in the nose and mouth. Cancers associated with CS are breast, uterus, and thyroid cancer. CS can also increase the risk for colon and rectum (colorectal) cancer, kidney cancer and skin cancer as well as a benign brain tumor called Lhermitte-Duclos disease. People with CS usually develop cancer in their 30s and 40s, which is earlier than most people develop cancer. Other symptoms of Cowden syndrome can include a large head (macrocephaly) and learning issues.

CS is caused by a change (mutation) in one of four different genes, including PTEN, SDHB, SDHD, and KLLN, which are all tumor suppressor genes. Tumor suppressors are involved in controlling cell growth. Typically, cells divide, grow, and die off in a controlled way. However, if a tumor suppressor gene is not working due to a mutation, it can cause a cell to divide faster than it should, leading to cancer. Mutations in the PTEN gene are the most common cause of CS. The condition is inherited in an autosomal dominant way, which means a mutation in only one of two copies of a gene that a person has is enough to cause the condition.

CS is typically suspected if a person has many hamartomas along with a personal or family history of a typical CS related cancer. Once a person is diagnosed with CS, cancer screenings (such as breast ultrasounds (mammograms) and blood tests), are usually recommended to find cancer in its early stages. If you or your child has been diagnosed with CS, talk with a doctor to decide on the best management options. Meeting with a genetic counselor may be helpful to better understand the risks of CS in your family. Support groups are available to connect with other families affected by CS.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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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 52 free, full-text research articles on human participants. First 3 results:

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
 

Author(s): Lamis Yehia, Farshad Niazi, Ying Ni, Joanne Ngeow, Madhav Sankunny, Zhigang Liu, Wei Wei, Jessica L Mester, Ruth A Keri, Bin Zhang, Charis Eng

Journal: Am. J. Hum. Genet.. 2015 Nov;97(5):661-76.

 

Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development. Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifetime risks of epithelial cancers, such that ...

Last Updated: 7 Nov 2015

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[Gastrointestinal manifestations in Cowden syndrome. Screening recommendations].
 

Author(s): Helena León-Brito, Susana Oquiñena Legaz, Rosa Iglesias Picazo, María Fraile González, Irene Aresté Anduaga, M Rosario Aznárez Barrio, Antonio M Pueyo Royo, Ana C Guerra Lacunza

Journal: Rev Esp Enferm Dig. 2015 Jul;107(8):521-3.

 

Last Updated: 3 Aug 2015

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A 50-Year-Old Woman With Cowden Syndrome and Joint Pains.
 

Author(s): Vinay Sagar, Jeffrey R Bond, Vaidehi R Chowdhary

Journal: Arthritis Care Res (Hoboken). 2015 Nov;67(11):1604-8.

 

Last Updated: 28 Oct 2015

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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 8 free, full-text review articles on human participants. First 3 results:

Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature.
 

Author(s): Maria Angela Gosein, Dylan Narinesingh, Cemonne Ann-Alicia Celeste Nixon, Sanjeeva Reddy Goli, Paramanand Maharaj, Alexander Sinanan

Journal:

 

Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and ...

Last Updated: 4 Aug 2016

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Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome.
 

Author(s): Vania Nosé

Journal: Head Neck Pathol. 2016 Jun;10(2):131-8.

 

PTEN hamartoma tumor syndrome refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Cowden syndrome, the principal PTEN-related disorder is characterized by multiple neoplasms and hamartomas, mucosal papillomatosis, and skin lesions, ...

Last Updated: 21 Apr 2016

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Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2015 Feb;19(103):109-16.

 

Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting ...

Last Updated: 1 Mar 2015

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