Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
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DOI：
10.1053/j.gastro.2014.01.022
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发表时间：
2014-05
期刊：
影响因子：
29.4
通讯作者：
Jenkins MA
中科院分区：
文献类型：
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作者：
Win AK;Dowty JG;Cleary SP;Kim H;Buchanan DD;Young JP;Clendenning M;Rosty C;MacInnis RJ;Giles GG;Boussioutas A;Macrae FA;Parry S;Goldblatt J;Baron JA;Burnett T;Le Marchand L;Newcomb PA;Haile RW;Hopper JL;Cotterchio M;Gallinger S;Lindor NM;Tucker KM;Winship IM;Jenkins MA
我们研究了2332名MUTYH单等位基因突变的个体，其中包括264名MUTYH突变的结直肠癌（CRC）患者的9504名亲属。我们估计，无论家族史如何，单等位基因突变男性携带者70岁时的CRC风险为7.2%（95%置信区间[CI]，4.6%-11.3%），单等位基因突变女性携带者为5.6%（95% CI，3.6%-8.8%）。对于具有CRC一级亲属的单等位基因MUTYH突变携带者，在50岁时诊断为没有MUTYH突变，CRC的风险男性为12.5%（95%CI，8.6%-17.7%），女性为10%（95%CI，6.7%-14.4%）。MUTYH单等位基因突变携带者与CRC一级亲属的CRC风险足够高，需要比一般人群更密集的筛查。
We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks, through 70 y of age, of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%–8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC, diagnosed by 50 y of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men and (95% CI, 8.6%–17.7%) and 10% for women (95% CI, 6.7%–14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.
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影响因子：
8.8
作者：
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影响因子：
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Whittemore, Alice S.
影响因子：
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Dowty, James G.;Win, Aung K.;Buchanan, Daniel D.;Lindor, Noralane M.;Macrae, Finlay A.;Clendenning, Mark;Antill, Yoland C.;Thibodeau, Stephen N.;Casey, Graham;Gallinger, Steve;Le Marchand, Loic;Newcomb, Polly A.;Haile, Robert W.;Young, Graeme P.;James, Paul A.;Giles, Graham G.;Gunawardena, Shanaka R.;Leggett, Barbara A.;Gattas, Michael;Boussioutas, Alex;Ahnen, Dennis J.;Baron, John A.;Parry, Susan;Goldblatt, Jack;Young, Joanne P.;Hopper, John L.;Jenkins, Mark A.
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影响因子：
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作者：
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通讯作者：
Jenkins, Mark A.