Genetics & Genomics

Cowden Syndrome: What Oncology Nurses Need to Know About Increased Risk of Developing Certain Cancers

Laura C. Curr Beamer

Cowden syndrome, genetic cancer syndromes, breast cancer, risk management, cancer prevention
ONF 2014, 41(5), 555-557. DOI: 10.1188/14.ONF.555-557

Cowden syndrome (CS) is a genetic disorder characterized by multiple benign tissue growths (i.e., hamartomas) and an increased risk of developing specific cancers, such as breast, thyroid, kidney, endometrial, or colorectal cancer (Genetics Home Reference, 2012). This genetic syndrome was named after a person diagnosed with the disorder (Lloyd & Dennis, 1963). CS is part of a larger syndrome called PTEN hamartomatous syndrome, which also includes Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome (Eng, 2014).

Jump to a section


    Bushby, K. M., Cole, T., Matthews, J. N., & Goodship, J. A. (1992). Centiles for adult head circumference. Archives of Disease in Childhood, 67, 1286-1287.
    DermNet NZ. (2014). Trichilemmoma. Retrieved from
    Eng, C. (2014). PTEN hamartoma tumor syndrome (PHTS). In R. A. Pagon, M. P. Adam, H. H. Ardiner, T. D. Bird, C. R. Dolan, C. T. Fong, … K. Stephens (Eds.), GeneReviews®. Retrieved from
    Genetics Home Reference. (2012). Cowden syndrome. Retrieved from
    Genetics Home Reference. (2014). Penetrance. Retrieved from
    Lloyd, K. M., II, & Dennis, M. (1963). Cowden's disease. A possible new symptom complex with multiple system involvement. Annals of Internal Medicine, 58, 136-142.
    MedlinePlus. (2014). Hamartoma. Retrieved from
    Mester, J. L., Tilot, A. K., Rybicki, L. A., Frazier, T. W., II, & Eng, C. (2011). Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in PTEN knock-in murine model. European Journal of Human Genetics, 19, 763-768.
    National Comprehensive Cancer Network. (2014). NCCN clinical practice guidelines for genetic/familial high-risk assessment: Breast and ovarian [v.1.2014]. Retrieved from
    Ngeow, J., Stanuch, K., Mester, J. L., Barnholtz-Sloan, J. S., & Eng, C. (2014). Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. Journal of Clinical Oncology, 32, 1818-1824. doi:10.1200/jco.2013.53.6656
    Office of Rare Diseases Research. (2011). Lhermitte-Duclos disease. Retrieved from
    Pilarski, R., Burt, R., Kohlman, W., Pho, L., Shannon, K. M., & Swisher, E. (2013). Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and revised diagnostic criteria. Journal of the National Cancer Institute, 105, 1607-1616.
    Stuppia, L., Antonucci, I., Palka, G., & Gatta, V. (2012). Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. International Journal of Molecular Sciences, 13, 3245-3276. doi:10.3390/ijms13033245
    Tan, M. H., Mester, J. L., Ngeow, J., Rybicki, L. A., Orloff, M. S., & Eng, C. (2012). Lifetime cancer risks in individuals with germline PTEN mutations. Clinical Cancer Research, 18, 400-407.