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Lynch Syndrome: Identifying Patients at Risk for HNPCC


In the year 2011, there will be an estimated 141, 210 people diagnosed with colorectal cancer (CRC) and 49,380 will die of the disease in the United States.1 There are both modifiable and nonmodifiable risk factors for the development of CRC. Nonmodifiable risk factors include: a personal or family history of colorectal cancer; a personal history of inflammatory bowel disease and diabetes.1 Approximately 5% of people diagnosed with CRC will have a hereditary genetic syndrome that caused the disease.2 The most prevalent of these syndromes is Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC). This syndrome is caused by an inherited mutation in a DNA mismatch repair gene. Persons with HNPCC have a greater risk for several cancers; however, the greatest lifetime cancer risk is of developing CRC, estimated at 80% to 90%.3

Polinsky and colleagues recently published a continuing education article, explaining how to screen and counsel patients at risk for Lynch syndrome. The authors identify obtaining a thorough personal and family cancer and medical history as the first step in identifying a person at risk. This should include at least three generations from both the maternal and paternal sides of the family.4 

Research criteria developed to identify persons at risk for developing Lynch syndrome includes the Amsterdam Criteria II (AC II) and Revised Bethesda Guidelines. AC II lists the minimum criteria for clinical definition of Lynch syndrome and the Revised Bethesda Guidelines include criteria for testing CRC tumors.

Polinsky et al. identify reduction of cancer-related mortality through cancer risk reduction and early detection as the goal for diagnosis of HNPCC. High risk management options for prevention and reduction of CRC associated with HNPCC include: 4

  • Begin colonoscopy screening at age 20 to 25 or 2 - 5 years younger than the age at which the youngest relative was diagnosed with CRC, whichever is younger
  • Repeat colonoscopy screening every 1 to 2 years
  • If colonoscopy screening cannot be adhered to, a colectomy can be considered
  • Aspirin and celecoxib can be offered as chemopreventive agents

Women with HNPCC should consider screening for ovarian and endometrial cancers. All persons with HNPCC should have additional extracolonic screening for cancers including gastric and small bowel, urinary tract, pancreatic, brain and other CNS malignancies. 4

The authors concluded that oncology nurses and nurse practitioners have an important role in identifying those at risk for HNPCC. Thus, early identification can translate into mortality reduction through early detection or prevention.

ManageCRC Commentary

Oncology nurses and advanced practitioners have continually played a role in educating patients on modifiable risk factors for CRC including: diets low in animal fat and processed foods, smoking cessation, limiting alcohol consumption and increasing regular exercise activity. It is clear that their role for assessment of nonmodifiable risk factors is critical. Even though those with HNPCC comprise less than 5% of total CRCs, the risk for development of other cancers is also increased. Identifying those at risk for this genetic mutation earlier in the health care continuum can minimize cancer diagnoses and mortality associated with them.


  1. American Cancer Society. Colorectal cancer facts and figures 2011-2013. Atlanta, GA: American Cancer Society, 2011. Free link to publication: http://www.cancer.org/acs/groups/content/@epidemiologysurveilance/documents/document/acspc-028323.pdf
  2. Butterworth AS, Higgins JP, Pharoah P. Relative and absolute risk of colorectal cancer for individuals with a family history: A meta-analysis. Eur J Cancer. 2006; 42: 216-227. doi:10.1016/j.ejca.2005.09.023 Link to abstract: http://www.ncbi.nlm.nih.gov/pubmed?term=Relative%20and%20absolute%20risk%20of%20colorectal%20cancer%20for%20individuals%20with%20a%20family%20history%3A%20a%20meta-analysis
  3. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterol. 1996; 110:1020-1027. Link to abstract: http://www.gastrojournal.org/article/S0016-5085%2896%2900154-0/abstract?referrer=http://www.ncbi.nlm.nih.gov/pubmed/8612988
  4. Polinsky C, Brant R, Tucci, McHugh T. Lynch syndrome: Identifying patients at risk for HNPCC. Oncology Nurse Adviser. 2011; March/April: 14-18. Free link to article: http://www.oncologynurseadvisor.com/lynch-syndrome-identifying-patients-at-risk-for-hnpcc/article/198444/


Article Created On : 6/10/2011 9:54:13 AM             Article Updated On : 6/10/2011 9:54:13 AM