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Mortality and cancer incidence in carriers of balanced Robertsonian translocations: A national cohort study

American Journal of Epidemiology Dec 12, 2018

Schoemaker MJ, et al. - Researchers examined 1,987 carriers of a balanced Robertsonian translocation (which results from fusion of two acrocentric chromosomes) diagnosed in Great Britain for an average of 24.1 years in order to determine the incidence of mortality and site-specific cancer risks in these subjects. They assessed standardised mortality (SMR) and incidence (SIR) ratios and compared the number of observed events against population rates. Age at cytogenetic diagnosis was identified as a factor on which depended the mortality risks in diagnosed carriers vs population, this was possibly indicative of age-specific cytogenetic referral reasons. A greater risk of childhood leukaemia and non-Hodgkin lymphoma might be seen among carriers. In addition, a greater risk of breast cancer could be seen among those diagnosed with rob(13;14).
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