Genetic counseling involves confirmation of family history, evaluation of cancer risk, and psychosocial assessment. Counselors can conduct an in-depth discussion regarding the pros and cons of genetic testing, coordination of genetic testing, and interpretation of genetic test results. Customized risk reduction options and risk-appropriate screening recommendations, as well as resources for follow-up and support, should be reviewed. Some institutions may have a medical genetics department or cancer risk assessment program, but many do not. Helpful resources for locating a health care professional who performs genetic counseling and testing for Lynch syndrome can be found through the National Society of Genetic Counselors, GeneTests, and the National Cancer Institute Physician Data Query.


The goal for diagnosis of Lynch syndrome is to reduce the number of cancer-related deaths through cancer risk reduction and early detection of new lesions. Increasing the frequency of colonoscopies has been proven to decrease cancer mortality in Lynch syndrome families.1 Consequently, recommendations suggest affected persons with Lynch syndrome begin colonoscopy screening at age 20 to 25 years or 2 to 5 years younger than the youngest relative at diagnosis of colon cancer, whichever is younger. Patients should undergo repeat colonoscopy screening every 1 to 2 years. If a patient is unable to adhere to colonoscopy screening or colorectal cancer is diagnosed, colectomy can be considered to reduce (subsequent) cancer risk.22 Aspirin and celecoxib (Celebrex) are two nonsteroidal anti-inflammatory drugs (NSAIDs) associated with a possible decrease in polyp recurrence and lower number of high-grade adenomas in Lynch syndrome;23 thus, they can be offered as chemopreventive agents for colorectal cancer.

Women with Lynch syndrome should consider screening with annual transvaginal ultrasound and endometrial sampling. Serum measurement of the tumor marker cancer antigen (CA)-125 can be included to screen for ovarian cancer; however, screening has not been associated with a reduction in ovarian cancer mortality.24 Therefore, total abdominal hysterectomy with bilateral salpingo- oophorectomy is encouraged for women with Lynch syndrome who have completed childbearing. The procedure has been shown to reduce the risk for endometrial and ovarian cancers in women.25

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Additional extracolonic surveillance is also recommended for patients with Lynch syndrome. Screening for gastric and small bowel cancers should occur every 2 to 3 years starting at age 30 to 35 years. Gastric cancer screening involves upper GI endoscopy. Gastric biopsies may be performed to monitor for histologic changes. Screening for small bowel cancers can be achieved using capsule endoscopy.22 Annual urinalysis with or without urine cytology can be used to screen for urinary tract cancers. Screening is limited for other Lynch syndrome-related cancers. Currently, an annual physical examination is the only recommendation for brain tumors and other CNS cancers. Pancreatic cancer screening is available only on a research basis.22 Patients are counseled to report any lingering symptoms or illnesses, particularly headache, bone pain, or abdominal discomfort, for prompt evaluation. Additional organ-targeted surveillance can be considered based on the specific symptoms and cancers in the patient’s family.

Persons who test negative for the confirmed germline mutation in their family may follow screening guidelines similar to those for the general population.22 Of note, family cancer histories may remain consistent with Lynch syndrome despite not identifying a germline DNA mutation. This may be due to a mutation in a region of the mismatch repair gene not being tested or in an undiscovered gene. Therefore, high risk recommendations should also be given to these families.


Nurses and nurse practitioners (NPs) involved in the care of oncology patients serve an important role in identifying patients at risk for Lynch syndrome. Early recognition of risk factors can determine if patients have a high risk for subsequent cancers and family members at high risk. Oncology nurses have the opportunity to raise the patient’s awareness of his or her risk for Lynch syndrome. Identifying high-risk families can reduce cancer mortality through early detection or prevention of cancers. ONA

Cristina Polinsky and Rachael Brandt are certified genetic counselors in the Cancer Risk Assessment and Genetics Program, Main Line Health in Bryn Mawr and Wynnewood, Pennsylvania. Rosemarie Tucci is manager for Oncology Programs, Lankenau Medical Center, Wynnewood, Pennsylvania. Terri McHugh is a medical oncologist and the medical director of the Cancer Risk Assessment and Genetics Program with Main Line Health.

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2. Palomaki GE, McClain MR, Melillo S, et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 2009;11(1):42-65.

3. Kovacs ME, Papp J, Szentirmay Z, et al. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat. 2009;30(2):197-203.

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7. Fast Stats. Surveillance Epidemiology and End Results Web site. Accessed February 23, 2011.

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13. Hendriks YM, Wagner A, Morreau H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 2004;127(1):17-25.

14. Baglietto L, Lindor NM, Dowty JG, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010;102(3):193-201.

15. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008;135(2):419-428.

16. Jass JR, Stewart SM. Evolution of hereditary non-polyposis colorectal cancer. Gut. 1992;33(6):783-786.

17. Alexander J, Watanabe T, Wu TT, et al. Histopathological identification of colon cancer with microsatellite instability. Am J Pathol. 2001;158(2):527-535.

18. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34(5):424-425.

19. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116(6):1453-1456.

20. Cunningham JM, Kim CY, Christensen ER, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001;69(4):780-790.

21. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96(4):261-268.

22. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) Colorectal Cancer Screening. Version 2.2011. National Comprehensive Cancer Network Web site. Accessed February 24, 2011.

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24. Gerritzen LH, Hoogerbrugge N, Oei AL, et al. Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome. Fam Cancer. 2009;8(4):391-397.

25. Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. New Engl J Med. 2006;354(3):261-269.

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