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abstract
Purpose For carriers
of germline mutations in DNA mismatch repair genes, the most relevant
statistic for cancer prevention is colorectal
cancer (Lynch syndrome) risk, particularly in
the short term.
Methods We conducted a
meta-analysis of all independent published Lynch syndrome studies
reporting age- and sex-dependent colorectal
cancer risks. We estimated 5-year colorectal
cancer risk over different age groups, separately for male and female
mutation
carriers, and number needed to screen to prevent
one death.
Results We pooled estimates from analyses of 1,114 Lynch syndrome families (508 with MLH1 mutations and 606 with MSH2 mutations). On average, one in 71 male and one in 102 female MLH1 or MSH2
mutation carriers in their 20s will be diagnosed with colorectal cancer
in the next 5 years. These colorectal cancer risks
increase with age, peaking in the 50s (one in
seven males and one in 12 females), and then decrease with age (one in
13 males
and one in 19 females in their 70s). Annual
colonoscopy in 16 males or 25 females in their 50s would prevent one
death from
colorectal cancer over 5 years while resulting
in almost no serious complications. In comparison, annual colonoscopy in
155
males or 217 females in their 20s would prevent
one death while resulting in approximately one serious complication.
Conclusion For MLH1 or MSH2 mutation carriers, current guidelines recommend colonoscopy every 1 to 2 years starting in their 20s. Our findings support
this regimen from age 30 years; however, it might not be justifiable for carriers who are in their 20s.
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