Scoping the family history: assessment of Lynch syndrome (hereditary nonpolyposis colorectal cancer) in primary care settings--a primer for nurse practitioners

J Am Acad Nurse Pract. 2008 Feb;20(2):76-84. doi: 10.1111/j.1745-7599.2007.00282.x.


Purpose: To describe and discuss the characteristic features and red flags of Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, that warrants referral for genetic cancer risk assessment (GCRA). A focus on the nurse practitioner's (NP) role in familial risk assessment, physical examination, initiation of genetic referrals, and issues related to the genetic counseling process are also discussed.

Data sources: A review and synopsis of professional guidelines, clinical articles, and research studies on Lynch syndrome and the genetics of inherited cancer syndromes associated with colorectal cancer. Online resources from the American Gastroenterological Association, American Medical Association, the American Nurses Association, the National Comprehensive Cancer Network, the National Cancer Institute, the National Cancer Institute-Physician Data Query, the National Coalition of Health Professional Education in Genetics, the National Human Genome Research Institute, the National Society of Genetic Counselors, International Society of Nurses in Genetics, and the Oncology Nursing Society.

Conclusions: Approximately 5% of all colon cancers are because of a germ line mutation predisposing individuals and their family members to colorectal and other cancers. Although the efficacy of screening modalities is established, healthcare providers often fail to identify those at greatest risk for disease. The extended family history is the first step in recognition of individuals "suspect" for hereditary colon cancers such as Lynch syndrome. Early-age onset of Lynch syndrome-associated cancers, an autosomal-dominant pattern, multiple primary tumors in an individual or multiple family members with Lynch syndrome-associated cancers, characteristic pathological features of colon cancer, or a known germ line Lynch syndrome mutation in a family member are "red flags" that will aid NPs in identifying individuals who may benefit from GCRA. IMPLICATIONS FOR NURSE PRACTITIONER PRACTICE: The importance of enhanced surveillance for early diagnosis and prevention of disease is a critical part of primary care. Thus, it is imperative that NPs obtain a minimum of a three-generation pedigree, recognize hereditary cancer patterns, and provide referral counseling for consideration of genetic testing of individuals suspect for Lynch syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / nursing
  • Female
  • Genetic Counseling / organization & administration
  • Genetic Testing / organization & administration*
  • Germ-Line Mutation / genetics
  • Humans
  • Male
  • Medical History Taking / methods*
  • Nurse Practitioners / organization & administration*
  • Nurse's Role*
  • Nursing Assessment / organization & administration*
  • Patient Education as Topic / organization & administration
  • Pedigree
  • Physical Examination / nursing
  • Primary Health Care / organization & administration
  • Referral and Consultation / organization & administration
  • Risk Assessment / organization & administration