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dc.contributor.authorSchoemaker, MJen_US
dc.contributor.authorJones, MEen_US
dc.contributor.authorHiggins, CDen_US
dc.contributor.authorWright, AFen_US
dc.contributor.authorUnited Kingdom Clinical Cytogenetics Groupen_US
dc.contributor.authorSwerdlow, AJen_US
dc.coverage.spatialUnited Statesen_US
dc.date.accessioned2018-12-05T11:32:42Z
dc.date.issued2019-03-01en_US
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/30535276en_US
dc.identifier5233452en_US
dc.identifier.citationAm J Epidemiol, 2019, 188 (3), pp. 500 - 508en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/2969
dc.identifier.eissn1476-6256en_US
dc.identifier.doi10.1093/aje/kwy266en_US
dc.description.abstractA balanced robertsonian translocation (rob) results from fusion of 2 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 1,987 carriers diagnosed in Great Britain for deaths and cancer risk, over an average of 24.1 years. Standardized mortality and incidence ratios were calculated comparing the number of observed events against population rates. Overall mortality was higher for carriers diagnosed before age 15 years (standardized mortality ratio (SMR) = 2.00, 95% confidence interval (CI): 1.09, 3.35), similar for those diagnosed aged 15-44 years (SMR = 1.06, 95% CI: 0.86-1.28), and lower for those diagnosed aged 45-84 years (SMR = 0.81, 95% CI: 0.68, 0.95). Cancer incidence was higher for non-Hodgkin lymphoma (standardized incidence ratio (SIR) = 1.90, 95% CI: 1.01, 3.24) and childhood leukemia (SIR = 14.5, 95% CI: 1.75, 52.2), the latter particularly in rob(15;21) carriers (SIR = 447.8, 95% CI: 11.3, 2,495). Rob(13;14) carriers had a higher 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 leukemia and non-Hodgkin lymphoma and those diagnosed with rob(13;14) of breast cancer.en_US
dc.format.extent500 - 508en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0en_US
dc.subjectchromosome disordersen_US
dc.subjectcohort studiesen_US
dc.subjectcytogeneticsen_US
dc.subjectepidemiologyen_US
dc.subjectgeneticsen_US
dc.subjecthematological malignanciesen_US
dc.subjectmortalityen_US
dc.subjectneoplasmsen_US
dc.titleMortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study.en_US
dc.typeJournal Article
dcterms.dateAccepted2018-12-04en_US
rioxxterms.versionofrecord10.1093/aje/kwy266en_US
rioxxterms.licenseref.startdate2019-03-01en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfAm J Epidemiolen_US
pubs.issue3en_US
pubs.notesNo embargoen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.publication-statusPublisheden_US
pubs.volume188en_US
pubs.embargo.termsNo embargoen_US
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorSchoemaker, Minouken_US
dc.contributor.icrauthorJones, Michaelen_US
dc.contributor.icrauthorSwerdlow, Anthonyen_US


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