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Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH
  • Published Date:
    Jun 02 2016
  • Source:
    Int J Cancer. 139(7):1557-1563.

Public Access Version Available on: October 01, 2017 information icon
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  • Pubmed ID:
  • Pubmed Central ID:
  • Description:
    Germline mutations in the DNA base excision repair gene MUTYH are known to increase a carrier's risk of colorectal cancer. However, the risks of other (extracolonic) cancers for MUTYH mutation carriers are not well defined. We identified 266 probands (91% Caucasians) with a MUTYH mutation (41 biallelic and 225 monoallelic) from the Colon Cancer Family Registry. Mutation status, sex, age and histories of cancer from their 1,903 first- and 3,255 second-degree relatives were analyzed using modified segregation analysis conditioned on the ascertainment criteria. Compared with incidences for the general population, hazard ratios (HRs) (95% confidence intervals [CIs]) for biallelic MUTYH mutation carriers were: urinary bladder cancer 19 (3.7-97) and ovarian cancer 17 (2.4-115). The HRs (95% CI) for monoallelic MUTYH mutation carriers were: gastric cancer 9.3 (6.7-13); hepatobiliary cancer 4.5 (2.7-7.5); endometrial cancer 2.1 (1.1-3.9) and breast cancer 1.4 (1.0-2.0). There was no evidence for an increased risk of cancers at the other sites examined (brain, pancreas, kidney or prostate). Based on the USA population incidences, the estimated cumulative risks (95% CI) to age 70 years for biallelic mutation carriers were: bladder cancer 25% (5-77%) for males and 8% (2-33%) for females and ovarian cancer 14% (2-65%). The cumulative risks (95% CI) for monoallelic mutation carriers were: gastric cancer 5% (4-7%) for males and 2.3% (1.7-3.3%) for females; hepatobiliary cancer 3% (2-5%) for males and 1.4% (0.8-2.3%) for females; endometrial cancer 3% (2%-6%) and breast cancer 11% (8-16%). These unbiased estimates of both relative and absolute risks of extracolonic cancers for people, mostly Caucasians, with MUTYH mutations will be important for their clinical management.

  • Document Type:
  • Collection(s):
  • Funding:
    HHSN261201000140C/CA/NCI NIH HHS/United States
    U01 CA074799/CA/NCI NIH HHS/United States
    U24 CA074783/CA/NCI NIH HHS/United States
    N01 CN067009/CN/NCI NIH HHS/United States
    U24 CA074794/CA/NCI NIH HHS/United States
    N01PC35137/CA/NCI NIH HHS/United States
    U24 CA074806/CA/NCI NIH HHS/United States
    HHSN261201300009C/CA/NCI NIH HHS/United States
    U24 CA097735/CA/NCI NIH HHS/United States
    U01 CA074794/CA/NCI NIH HHS/United States
    HHSN261201300011C/RC/CCR NIH HHS/United States
    HHSN261201300012I/CA/NCI NIH HHS/United States
    N01PC35142/CA/NCI NIH HHS/United States
    HHSN261201300021C/CA/NCI NIH HHS/United States
    HHSN261201000035I/CA/NCI NIH HHS/United States
    HHSN261201000034C/CA/NCI NIH HHS/United States
    U01 CA097735/CA/NCI NIH HHS/United States
    UM1 CA167551/CA/NCI NIH HHS/United States
    U58 DP003862/DP/NCCDPHP CDC HHS/United States
    U01 CA074783/CA/NCI NIH HHS/United States
    U24 CA074799/CA/NCI NIH HHS/United States
    U01 CA074806/CA/NCI NIH HHS/United States
    U24 CA074800/CA/NCI NIH HHS/United States
    HHSN261201000121C/CP/NCI NIH HHS/United States
    U01 CA074800/CA/NCI NIH HHS/United States
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