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Genetics of Colorectal Cancer (PDQ®)

  • Updated: 11/12/2014

Table 12. Cancer Risk in Individuals with Germline PTEN Mutationsa

Cancer Age-Adjusted SIR (95% CI) Age-Related Penetrance Estimates 
Breast25.4 (19.8–32.0)85% starting around age 30 yb
Colorectal10.3 (5.6-17.4)9% starting around age 40 y
Endometrial42.9 (28.1–62.8)28% starting around age 25 y
Kidney30.6 (17.8–49.4)34% starting around age 40 y
Melanoma8.5 (4.1–15.6)6% with earliest age of onset 3 y
Thyroid51.1 (38.1–67.1)35% at birth and throughout life

CI = confidence interval; SIR = standardized incidence ratio.
aAdapted from Tan et al. [465]
bOther historical studies have suggested a lower lifetime risk of breast cancer, in the range of 25%–50%.[464] (Refer to the Cowden syndrome section in the PDQ summary on Genetics of Breast and Ovarian Cancer summary for more information.)

References

  1. Pilarski R, Burt R, Kohlman W, et al.: Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 105 (21): 1607-16, 2013.  [PUBMED Abstract]

  2. Tan MH, Mester JL, Ngeow J, et al.: Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18 (2): 400-7, 2012.  [PUBMED Abstract]