dc.contributor.author | Schoemaker, MJ | |
dc.contributor.author | Jones, ME | |
dc.contributor.author | Higgins, CD | |
dc.contributor.author | Wright, AF | |
dc.contributor.author | UK Clinical Cytogenetics Group, | |
dc.contributor.author | Swerdlow, AJ | |
dc.date.accessioned | 2018-12-04T12:54:23Z | |
dc.date.accessioned | 2018-12-05T10:12:12Z | |
dc.date.issued | 2019-09-15 | |
dc.identifier.citation | International journal of cancer, 2019, 145 (6), pp. 1493 - 1498 | |
dc.identifier.issn | 0020-7136 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/2968 | |
dc.identifier.eissn | 1097-0215 | |
dc.identifier.doi | 10.1002/ijc.32031 | |
dc.description.abstract | The 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. | |
dc.format | Print-Electronic | |
dc.format.extent | 1493 - 1498 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | WILEY | |
dc.relation.replaces | https://repository.icr.ac.uk/handle/internal/2967 | |
dc.relation.replaces | internal/2967 | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | UK Clinical Cytogenetics Group | |
dc.subject | Chromosomes, Human, Pair 11 | |
dc.subject | Chromosomes, Human, Pair 22 | |
dc.subject | Humans | |
dc.subject | Neoplasms | |
dc.subject | Translocation, Genetic | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Incidence | |
dc.subject | Prospective Studies | |
dc.subject | Heterozygote | |
dc.subject | Adolescent | |
dc.subject | Adult | |
dc.subject | Aged | |
dc.subject | Aged, 80 and over | |
dc.subject | Middle Aged | |
dc.subject | Child | |
dc.subject | Child, Preschool | |
dc.subject | Infant | |
dc.subject | Infant, Newborn | |
dc.subject | Male | |
dc.subject | Young Adult | |
dc.subject | United Kingdom | |
dc.title | Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2018-11-13 | |
rioxxterms.versionofrecord | 10.1002/ijc.32031 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2019-09 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | International journal of cancer | |
pubs.issue | 6 | |
pubs.notes | Not known | |
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.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-status | Published | |
pubs.volume | 145 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Aetiological Epidemiology | |
dc.contributor.icrauthor | Schoemaker, Minouk | |
dc.contributor.icrauthor | Jones, Michael | |
dc.contributor.icrauthor | Swerdlow, Anthony | |