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

Laura Curr Beamer, DNP, AOCNP®, AOCNS®, APNG


Oncol Nurs Forum. 2014;41(5):557-558. 

In This Article

Basic Genetics

Cowden syndrome is transmitted from parent to child through an autosomal dominant pattern of inheritance. An autosome is a chromosome that does not convey gender, therefore an autosome is any chromosome other than the sex chromosomes X and Y. Genetic disorders that are transmitted on autosomal chromosomes occur in males and females. Dominant means the genetic condition may occur (i.e., be expressed) when only one copy of the genetic mutation is present. CS is most frequently caused by a mutation in the PTEN gene (Genetics Home Reference, 2012). A healthy PTEN gene suppresses tumors from forming. A mutation in the PTEN gene leads to uncontrolled cell growth, formation of hamartomas, and can potentially lead to the development of certain cancers. Hamartomas are an overgrowth of normal appearing and functioning mature cells that resemble, but are not, true tumors (MedlinePlus, 2014). CS is also caused by mutations in the KLLN, SDHB, or SDHD gene, but they are less common than PTEN (Genetics Home Reference, 2012).