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Genetics of Colorectal Cancer (PDQ®)

  • Updated: 07/11/2014

Table 11. Practice Guidelines for Diagnosis and Colon Surveillance of Lynch Syndrome

Organization  Tumor MSI  Tumor IHC  MMR Mutation Testing  Age Screening Initiated  Frequency  Method  Comments  
American Society of Colon and Rectal Surgeons (2001, 2003) [140-142]YesYesYesNANANA
American Cancer Society (2002) [143]NANACounseling to consider genetic testing21 y1–2 y until age 40 y, then annuallyC
GI Societies (2003)a [138]NANANA20–25 y1–2 yC
Europe Mallorca Group (2007) [384]YesYesYes20–25 y; consider stopping at age 80 y1–2 yCDespite acknowledging that existing data support a 3-y screening interval, this group elected to recommend a shorter screening interval.
NCCN (2014) [92]YesYesYes20–25 y OR 2–5 y before the youngest age at diagnosis in the family if it is before age 25 y, whichever comes first1–2 yCAdditional recommendations for families in whom a tumor has shown informative IHC and MSI, but no germline mutation found. Refer to page LS-A-2 of the NCCN guidelines for more information.[92]

C = colonoscopy; GI = gastrointestinal; IHC = immunohistochemistry; MMR = mismatch repair; MSI = microsatellite instability; NA = not addressed; NCCN = National Comprehensive Cancer Network.
aGI Societies – American Academy of Family Practice, American College of Gastroenterology, American College of Physicians-American Society of Internal Medicine, American College of Radiology, American Gastroenterological Association, American Society of Colorectal Surgeons, and American Society for Gastrointestinal Endoscopy.

References

  1. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2014. Rockledge, PA: National Comprehensive Cancer Network, 2014. Available online with free registration. Last accessed June 17, 2014. 

  2. Winawer S, Fletcher R, Rex D, et al.: Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence. Gastroenterology 124 (2): 544-60, 2003.  [PUBMED Abstract]

  3. Church J, Simmang C; Standards Task Force, et al.: Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum 46 (8): 1001-12, 2003.  [PUBMED Abstract]

  4. Standard Task Force, American Society of Colon and Rectal Surgeons, Collaborative Group of the Americas on Inherited Colorectal Cancer: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer. Dis Colon Rectum 44 (10): 1403, 2001.  [PUBMED Abstract]

  5. Smith RA, Cokkinides V, von Eschenbach AC, et al.: American Cancer Society guidelines for the early detection of cancer. CA Cancer J Clin 52 (1): 8-22, 2002 Jan-Feb.  [PUBMED Abstract]

  6. Vasen HF, Möslein G, Alonso A, et al.: Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 44 (6): 353-62, 2007.  [PUBMED Abstract]