open access: Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome

(2012) Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome

 Among the seven less common cancer types considered in our analysis, small bowel and ovarian cancer showed the earliest mean ages at diagnosis (mean, 46 years for small bowel and 44 years for ovarian cancer).

 Figures 1 and 2 show the age-dependent cumulative risks for the seven cancer types compared by gene and sex (univariate comparison). Table 2 gives information about mean ages at diagnosis, cumulative lifetime risks at 70 years, and SIRs with regard to the general population. Table 3 summarizes the results of multivariate modeling of sex and mutated gene, adjusted for registry and year of birth.

 Introduction
 In this retrospective cohort study, we investigated the risks of less common cancers in patients with LS. We were particularly interested in describing risk differences by sex and mutated MMR gene (MLH1, MSH2, and MSH6). Colorectal cancer and endometrial cancer were not included in this analysis because patients were preferentially ascertained on the basis of the presence of these cancers in their families. Therefore, in retrospective studies, the risks for these cancers are likely to be largely overestimated if the analysis does not account for ascertainment bias.^21....