作者: Mark A. Jenkins , James G. Dowty , Driss Ait Ouakrim , John D. Mathews , John L. Hopper
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摘要: Purpose For carriers of germline mutations in DNA mismatch repair genes, the most relevant statistic for cancer prevention is colorectal (Lynch syndrome) risk, particularly short term. Methods We conducted a meta-analysis all independent published Lynch syndrome studies reporting age- and sex-dependent risks. estimated 5-year risk over different age groups, separately male female mutation carriers, number needed to screen prevent one death. Results pooled estimates from analyses 1,114 families (508 with MLH1 606 MSH2 mutations). On average, 71 102 or their 20s will be diagnosed next 5 years. These risks increase age, peaking 50s (one seven males 12 females), then decrease 13 19 females 70s). Annual colonoscopy 16 m...