Hereditary breast cancer considering Cowden syndrome: a case study

Hereditary breast cancer and the BRCA1 and BRCA2 genes have received a great deal of publicity over the past few years. Patients and family members frequently ask if they can be tested to see whether they have the "breast cancer gene," assuming that all breast cancers can be linked to one chromosomal site. Although the BRCA1 and BRCA2 genes are the most common sites for hereditary breast cancer mutations, there are other hereditary gene mutations associated with breast cancer. Nurses should be aware of the spectrum of hereditary cancer syndromes and their associated "red flags." Important skills for the oncology nurse interested in genetic health include careful assessment of benign and malignant disease histories, alertness to physical findings, performance of risk assessments, and ability to access genetic health resources. The following case study describes the assessment process for a less common genetic disorder known as Cowden syndrome, or multiple hamartoma syndrome, a hereditary cancer syndrome associated with early-onset breast cancer, thyroid cancer, goiters, enlarged head size, and a variety of skin findings.