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

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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 62 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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Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.
 

Author(s): José Cameselle-Teijeiro, Carmen Fachal, José M Cabezas-Agrícola, Natividad Alfonsín-Barreiro, Ihab Abdulkader, Ana Vega-Gliemmo, José Antonio Hermo

Journal: Am. J. Clin. Pathol.. 2015 Aug;144(2):322-8.

 

PTEN hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations of the PTEN gene. PHTS includes Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. We describe how the peculiar pathologic and immunohistochemical thyroid features lead pathologists ...

Last Updated: 17 Jul 2015

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Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.
 

Author(s): Adebisi Alimi, Lauren A Weeth-Feinstein, Amy Stettner, Freddy Caldera, Jennifer M Weiss

Journal: Am. J. Med. Genet. A. 2015 Jun;167(6):1305-8.

 

We describe a patient with a severe juvenile polyposis phenotype, due to a de novo deletion of chromosome 10q22.3-q24.1. He was initially diagnosed with Juvenile polyposis syndrome (JPS) at age four after presenting with hematochezia due to multiple colonic juvenile polyps. He then ...

Last Updated: 28 May 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 6 free, full-text review articles on human participants. First 3 results:

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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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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Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
 

Author(s): Robert Pilarski, Randall Burt, Wendy Kohlman, Lana Pho, Kristen M Shannon, Elizabeth Swisher

Journal: J. Natl. Cancer Inst.. 2013 Nov;105(21):1607-16.

 

PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic criteria for Cowden syndrome, the principal PTEN-related disorder, were first established in 1996 before the identification of the ...

Last Updated: 6 Nov 2013

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Symptoms, Diagnosis, and Treatment

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