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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.authorUK Clinical Cytogenetics Groupen_US
dc.contributor.authorSwerdlow, AJen_US
dc.coverage.spatialUnited Statesen_US
dc.date.accessioned2018-12-04T12:54:23Z
dc.date.accessioned2018-12-05T10:12:12Z
dc.date.issued2018-11-29en_US
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/30496607en_US
dc.identifier.citationInt J Cancer, 2018en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/2968
dc.identifier.eissn1097-0215en_US
dc.identifier.doi10.1002/ijc.32031en_US
dc.description.abstractThe constitutional t(11;22)(q23;q11) translocation is the only recurrent non-Robertsonian translocation known in humans. Carriers are phenotypically normal and are usually referred for cytogenetic testing because of multiple miscarriages, infertility, or having aneuploidy in offspring. A breast cancer predisposition has been suggested, but previous studies have been small and had methodological shortcomings. We therefore conducted a long-term prospective study of cancer and mortality risk in carriers. We followed 65 male and 101 female carriers of t(11;22)(q23;q11) diagnosed in cytogenetic laboratories in Britain during 1976-2005 for cancer and deaths for an average of 21.4 years per subject. Standardised mortality (SMR) and incidence (SIR) ratios were calculated comparing the numbers of observed events with those expected from national age-, sex-, country- and calendar-period-specific population rates. Cancer incidence was borderline significantly raised for cancer overall (SIR=1.56, 95% CI: 0.98-2.36, n=22), and significantly raised for invasive breast cancer (SIR=2.74, 95% CI: 1.18-5.40, n=8) and in situ breast cancer (SIR=13.0, 95% CI: 3.55-33.4, n=4). Breast cancer risks were particularly increased at ages <50 (SIR=4.37, 95% CI: 1.42-10.2 for invasive, SIR=22.8, 95% CI: 2.76-82.5 for in situ). Mortality was borderline significantly raised for breast cancer (SMR=4.82, 95% CI: 0.99-14.1) but not significantly raised for other cancers or causes. Individuals diagnosed with t(11;22)(q23;q11) appear to be at several-fold increased breast cancer risk, with the greatest risks at premenopausal ages. Further research is required to understand the genetic mechanism involving 11q23 and 22q11 and there may be a need for enhanced breast cancer surveillance among female carriers. This article is protected by copyright. All rights reserved.en_US
dc.languageengen_US
dc.language.isoengen_US
dc.relation.replaceshttps://repository.icr.ac.uk/handle/internal/2967
dc.relation.replacesinternal/2967
dc.rights.urihttp://www.rioxx.net/licenses/under-embargo-all-rights-reserveden_US
dc.subjectbreast canceren_US
dc.subjectchromosome aberrationsen_US
dc.subjectcohort studiesen_US
dc.subjectcytogeneticsen_US
dc.subjectepidemiologyen_US
dc.subjectmortalityen_US
dc.subjectneoplasmsen_US
dc.titleMortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: a prospective study.en_US
dc.typeJournal Article
dcterms.dateAccepted2018-11-13en_US
rioxxterms.versionofrecord10.1002/ijc.32031en_US
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0en_US
rioxxterms.licenseref.startdate2018-11-29en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfInt J Canceren_US
pubs.notesNot knownen_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-statusPublished onlineen_US
pubs.embargo.termsNot knownen_US
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorSchoemaker, Minouken_US
dc.contributor.icrauthorJones, Michaelen_US
dc.contributor.icrauthorSwerdlow, Anthonyen_US


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