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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 Gynecologic Cancers for more information.)


  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]