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Biological Research For Nursing
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Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome): Molecular Pathogenesis and Clinical Approaches to Diagnosis and Management for Nurses

Emma L. Kurnat-Thoma, MS, RN

National Institutes of Health/National Institute of Nursing Research Graduate Partnership Program Scholar, University of Utah, Salt Lake City, kurnate@ mail.nih.gov

Hereditary nonpolyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is the most common form of hereditary colorectal cancer and is responsible for 2% to 4% of all colorectal cancers in the Western hemisphere. Generally characterized by early-onset colorectal carcinoma with a mean age of presentation of 40 to 45 years, it can also manifest with extracolonic adenocarcinomas and cancers of the endometrium, ovaries, stomach, pancreas, small intestine, hepatobiliary tract, upper uroepithelial tract, brain, and skin. HNPCC is autosomal dominant and carries an 80% lifetime risk of cancer development. This review addresses the molecular underpinnings of HNPCC while providing a concise approach to clinical detection, diagnosis, and management of patients who may or may not test positive for an HNPCC-causing mutation. Although applicable to any patient-care setting in which cancer may be observed, this review specifically addresses the role of nurses in detecting, diagnosing, and clinically managing HNPCC.

Key Words: HNPCC • Lynch syndrome • review • nursing • pathogenesis • screening • microsatellite instability (MSI) • mismatch repair (MMR) • family history • colorectal cancer

Biological Research For Nursing, Vol. 9, No. 3, 185-199 (2008)
DOI: 10.1177/1099800407308558
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