Increased Colorectal Cancer Incidence in Obligate Carriers of Heterozygous Mutations in MUTYH

摘要: Background & Aims MUTYH-associated polyposis (MAP) is an autosomal recessive disorder caused by mutations in the MUTYH gene. Patients with MAP are at extremely high risk of colorectal cancer, but risks and other cancers heterozygous carriers a single mutation uncertain. We performed retrospective study cancer incidence causes death among obligate heterozygote individuals. Methods index cases were identified from registers Germany, The Netherlands, United Kingdom. Cancer incidence, mortality, all-cause mortality data collected 347 parents unrelated spouses 3 who also found to be for mutations. These compared appropriate national sex-, age-, period-specific population obtain standardized ratios (SMR) (SIR). Results There was 2-fold increase cases, general (SIR, 2.12; 95% confidence interval [CI]: 1.30–3.28). Their not increased significantly (SMR, 1.02; CI: 0.41–2.10) nor overall 0.92; 0.70–1.18), 1.12; 0.83–1.48), or 0.94; 0.80–1.08). Conclusions relatives patients comparable that first-degree sporadic cancer. Screening measures should based on this modest risk.