Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: a National Cohort Study.
United Kingdom Clinical Cytogenetics Group
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A balanced Robertsonian translocation results from fusion of two acrocentric chromosomes. Carriers are phenotypically normal, and are often diagnosed because of recurrent miscarriages, infertility or aneuploid offspring. Mortality and site-specific cancer risks in carriers have not been prospectively investigated. We followed 1987 carriers diagnosed in Great Britain for deaths and cancer risk, over an average of 24.1 years. Standardised mortality (SMR) and incidence (SIR) ratios were calculated comparing the number of observed events against population rates. Overall mortality was raised for carriers diagnosed aged <15 (SMR=2.00, 95% confidence interval (CI): 1.09, 3.35), not raised for those diagnosed aged 15-44 (SMR=1.06, 95% CI: 0.86-1.28) and reduced for those diagnosed aged 45-84 (SMR=0.81, 95% CI: 0.68, 0.95). Cancer incidence was increased for non-Hodgkin lymphoma (SIR=1.90, 95% CI: 1.01, 3.24) and childhood leukaemia (SIR=14.5, 95% CI: 1.75, 52.2), the latter particularly in rob(15;21) carriers (SIR=447.8, 95% CI: 11.3, 2495). Rob(13;14) carriers had a raised breast cancer risk (SIR=1.58, 95% CI: 1.12, 2.15). Mortality risks relative to the population in diagnosed carriers depend on age at cytogenetic diagnosis, possibly reflecting age-specific cytogenetic referral reasons. Carriers might be at greater risk of childhood leukaemia and non-Hodgkin lymphoma and those diagnosed with rob(13;14) of breast cancer.
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Am J Epidemiol, 2018