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Genetics of Colorectal Cancer (PDQ®)
Health Professional Version   Last Modified: 12/19/2008
Table 6. Practice Guidelines for Diagnosis and Colon Surveillance of Lynch Syndrome

Organization   Tumor MSI   Tumor IHC   MMR Mutation Testing   Age Screening Initiated   Frequency   Method   Comments  
NCCN [109] Yes Yes Yesa 20–25 y 1–2 y C Families in whom a tumor has shown informative IHC and MSI but no germline mutation found should have at-risk relatives screened “as if” they were mutation carriers.
American Cancer Society [110] NA NA “Counseling to consider genetic testing” 21 y 1–2 y until age 40 y, then annually C
GI Societiesb[106] NA NA NA 20–25 y 1–2 y C
American Society of Colon and Rectal Surgeons[111-113] Yes Yes Yes NA NA NA
Europe “Mallorca Group” [248] Yes Yes Yes 20–25 y; consider stopping at age 80 y 1–2 y C Despite acknowledging that existing data support a 3-y screening interval, this group elected to recommend a shorter screening interval.

C = colonoscopy;GI = gastrointestinal; IHC = immunohistochemistry; MMR = mismatch repair; MSI = microsatellite instability; NA = not addressed; NCCN = National Comprehensive Cancer Network.
aOnly recommended if IHC demonstrates absence of a MMR protein, or if the tumor is MSI-High.
bGI 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. 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]

  2. Levin B, Barthel JS, Burt RW, et al.: Colorectal Cancer Screening Clinical Practice Guidelines. J Natl Compr Canc Netw 4 (4): 384-420, 2006.  [PUBMED Abstract]

  3. 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]

  4. Church J, Simmang C; Standards Task Force., American Society of Colon and Rectal Surgeons.Collaborative Group of the Americas on Inherited Colorectal Cancer and the Standards Committee of The American Society of Colon and Rectal Surgeons., 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]

  5. 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]

  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]


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