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dc.contributor.authorAntoniou, Antonisen
dc.contributor.authorFrancine, Durocheren
dc.contributor.authorSmith, Paulaen
dc.contributor.authorSimard, Jacquesen
dc.contributor.authorEaston, Douglasen
dc.date.accessioned2011-06-14T14:32:52Z
dc.date.available2011-06-14T14:32:52Z
dc.date.issued2005-12-12en
dc.identifier.citationBreast Cancer Research 2005, 8:R3
dc.identifier.issn1465-5411
dc.identifier.urihttp://www.dspace.cam.ac.uk/handle/1810/237681
dc.description.abstractAbstract Introduction Several genetic risk models for breast and ovarian cancer have been developed, but their applicability to specific populations has not been evaluated. We used data from French-Canadian families to evaluate the mutation predictions given by the BRCAPRO and BOADICEA models. We also used this data set to estimate the age-specific risks for breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Methods A total of 195 families with multiple affected individuals with breast or ovarian cancer were recruited through the INHERIT (INterdisciplinary HEalth Research International Team on BReast CAncer susceptibility) BRCAs research program. Observed BRCA1 and BRCA2 mutation status was compared with predicted carrier probabilities under the BOADICEA and BRCAPRO models. The models were assessed using Brier scores, attributes diagrams and receiver operating characteristic curves. Log relative risks for breast and ovarian cancer in mutation carriers versus population risks were estimated by maximum likelihood, using a modified segregation analysis implemented in the computer program MENDEL. Twenty-five families were eligible for inclusion in the BRCA1 penetrance analysis and 27 families were eligible for the BRCA2 penetrance analysis. Results The BOADICEA model predicted accurately the number of BRCA1 and BRCA2 mutations for the various groups of families, and was found to discriminate well at the individual level between carriers and noncarriers. BRCAPRO over-predicted the number of mutations in almost all groups of families, in particular the number of BRCA1 mutations. It significantly overestimated the carrier frequency for high predicted probabilities. However, it discriminated well between carriers and noncarriers. Receiver operating characteristic (ROC) curves indicate similar sensitivity and specificity for BRCAPRO and BOADICEA. The estimated risks for breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers were consistent with previously published estimates. Conclusion The BOADICEA model predicts accurately the carrier probabilities in French-Canadian families and may be used for counselling in this population. None of the penetrance estimates was significantly different from previous estimates, suggesting that previous estimates may be appropriate for counselling in this population.
dc.languageEnglishen
dc.language.isoen
dc.titleBRCA1and BRCA2mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian familiesen
dc.typeArticle
dc.date.updated2011-06-14T14:32:53Z
dc.description.versionRIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.en
dc.rights.holderAntoniou et al.; licensee BioMed Central Ltd.
prism.publicationDate2005en
dcterms.dateAccepted2005-11-09en
rioxxterms.versionofrecord10.1186/bcr1365en
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2005-12-12en
dc.contributor.orcidAntoniou, Antonis [0000-0001-9223-3116]
dc.contributor.orcidEaston, Douglas [0000-0003-2444-3247]
dc.identifier.eissn1465-542X
rioxxterms.typeJournal Article/Reviewen


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