Medicine and Health Sciences Commons^™

Hereditary Cancer Syndrome Recognition And Testing: Beyond Brca, Deborah O. Himes, Hanford B. Shuman

Faculty Publications

Hereditary cancer syndromes, resulting from mutations of tumor suppressor genes, can significantly increase the risk for breast cancer. Although hereditary breast and ovarian cancer syndrome caused by BRCA1/2mutations is well-known, less well-known hereditary cancer syndromes also exist. This article focuses on 3 other syndromes, including Li-Fraumeni, Cowden, and Peutz-Jeghers. This article will help prepare nurse practitioners to recognize key clinical features of these syndromes and understand testing criteria. Additionally, this article discusses barriers to diagnosing hereditary cancer syndromes and the role of primary care nurse practitioners in ordering genetic tests and making genetic referrals for optimal patient care.