Background MUTYH-associated polyposis is a recessively inherited disorder characterized by a lifetime risk of colorectal cancer that is up to 100%. Because specific histological and molecular genetic features of MUTYH-associated polyposis colorectal cancers might influence tumor behavior and patient survival, we compared survival between patients with MUTYH-associated polyposis colorectal cancer and matched control patients with colorectal cancer from the general population. Methods In this retrospective multicenter cohort study from Europe, 147 patients with MUTYH-associated polyposis colorectal cancer were compared with 272 population-based control patients with colorectal cancer who were matched for country, age at diagnosis, year of diagnosis, stage, and subsite of colorectal cancer. Kaplan-Meier survival and Cox regression analyses were used to compare survival between patients with MUTYH-associated polyposis colorectal cancer and control patients with colorectal cancer. All statistical tests were two-sided. Results Five-year survival for patients with MUTYH-associated polyposis colorectal cancer was 78% (95% confidence interval [CI] = 70% to 84%) and for control patients was 63% (95% CI = 56% to 69%) (log-rank test, P =. 002). After adjustment for differences in age, stage, sex, subsite, country, and year of diagnosis, survival remained better for MUTYH-associated polyposis colorectal cancer patients than for control patients (hazard ratio of death = 0.48, 95% CI = 0.32 to 0.72). Conclusions In a European study cohort, we found statistically significantly better survival for patients with MUTYH-associated polyposis colorectal cancer than for matched control patients with colorectal cancer.

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Keywords adult, aged, article, cancer diagnosis, cancer patient, cancer risk, cancer staging, cancer survival, cohort analysis, colorectal cancer, female, genetic association, human, major clinical study, male, molecular genetics, mutyh gene, phenotype, polyposis, population research, priority journal, retrospective study
Persistent URL dx.doi.org/10.1093/jnci/djq370, hdl.handle.net/1765/22051
Citation
Nielsen, M, van Steenbergen, L.N, Jones, N, Vogt, S, Vasen, H.F, Morreau, H, … Hes, F.J. (2010). Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. National Cancer Institute. Journal (Print), 102(22), 1724–1730. doi:10.1093/jnci/djq370