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Genetics of Colorectal Cancer (PDQ®)

  • Updated: 02/28/2013

Table 4. Absolute Risks of Colorectal Cancer for Mutation Carriers in Hereditary Colorectal Cancer Syndromes

Syndrome Absolute Risk in Mutation Carriers 
FAP90% by age 45 y [1]
Attenuated FAP69% by age 80 y [2]
Lynch40% to 80% by age 75 ya [3,4]
MYH-associated polyposis35% to 53% [5]
Peutz-Jeghers39% by age 70 y [6]
Juvenile polyposis17% to 68% by age 60 y [7,8]

FAP = familial adenomatous polyposis.
aRefer to the Lynch syndrome (LS) section of this summary for a full discussion of risk.

References

  1. Bussey HJ: Familial Polyposis Coli: Family Studies, Histopathology, Differential Diagnosis, and Results of Treatment. Baltimore, Md: The Johns Hopkins University Press, 1975. 

  2. Burt RW, Leppert MF, Slattery ML, et al.: Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 127 (2): 444-51, 2004.  [PUBMED Abstract]

  3. Vasen HF, Wijnen JT, Menko FH, et al.: Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110 (4): 1020-7, 1996.  [PUBMED Abstract]

  4. Stoffel E, Mukherjee B, Raymond VM, et al.: Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 137 (5): 1621-7, 2009.  [PUBMED Abstract]

  5. Aretz S, Uhlhaas S, Goergens H, et al.: MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 119 (4): 807-14, 2006.  [PUBMED Abstract]

  6. Hearle N, Schumacher V, Menko FH, et al.: Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 12 (10): 3209-15, 2006.  [PUBMED Abstract]

  7. Coburn MC, Pricolo VE, DeLuca FG, et al.: Malignant potential in intestinal juvenile polyposis syndromes. Ann Surg Oncol 2 (5): 386-91, 1995.  [PUBMED Abstract]

  8. Desai DC, Neale KF, Talbot IC, et al.: Juvenile polyposis. Br J Surg 82 (1): 14-7, 1995.  [PUBMED Abstract]