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Genetics & Genomics

Hereditary Polyposis Syndromes: Opportunities for Early Detection in Individuals and Families

Suzanne M. Mahon
CJON 2018, 22(2), 151-156 DOI: 10.1188/18.CJON.151-156

People with multiple polyps may have a germline mutation that places them at higher risk for developing colorectal, gastrointestinal, and other cancers. Genetic testing can often identify the specific polyposis syndrome and provide insight into appropriate recommendations for cancer prevention and early detection. Individuals with hereditary polyposis syndromes often begin developing polyps in their teenage years and require aggressive gastrointestinal surveillance to remove polyps. For some, the polyp burden will be too high to manage endoscopically and will require risk-reducing colectomies. Identification of individuals with hereditary polyposis syndromes may help to reduce morbidity and mortality.


AT A GLANCE

  • The identification of families with polyposis syndromes is important because aggressive surveillance and risk-reducing surgery can lead to the early detection and prevention of cancer.
  • Identifying individuals at risk, referring them for genetic evaluation, and ensuring follow-up with prevention and early detection recommendations are responsibilities of oncology nurses.
  • Oncology nurses can provide support and education to patients and families to help them medically and psychosocially manage their diagnoses. 

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