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Genetics of Colorectal Cancer (PDQ®)

  • Updated: 10/10/2014

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

Organization  Tumor MSI Tumor IHC MMR/EPCAM Genetic Testing Age Screening Initiated Frequency Method Comments 
American Society of Colon and Rectal Surgeons (2001, 2003) [140-142]YesYesMMR: YesNANANA
EPCAM: N/A
American Cancer Society (2002) [143]NANAMMR: Counseling to consider genetic testing21 y1–2 y until age 40 y, then annuallyC
EPCAM: N/A
GI Societies (2003)a [138]NANAMMR: NA20–25 y1–2 yC
EPCAM: N/A
Europe Mallorca Group (2007) [384]YesYesMMR: Yes20–25 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.
EPCAM: N/A
NCCN (2014) [92]YesYesMMR: Yes20–25 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]
EPCAM: Yes

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]