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dc.contributor.authorBenusiglio, Patrick Ren
dc.contributor.authorLesueur, Fabienneen
dc.contributor.authorLuccarini, Craigen
dc.contributor.authorConroy, Donald Men
dc.contributor.authorShah, Mitulen
dc.contributor.authorEaston, Douglasen
dc.contributor.authorDay, Nick Een
dc.contributor.authorDunning, Alisonen
dc.contributor.authorPharoah, Paulen
dc.contributor.authorPonder, Bruceen
dc.date.accessioned2011-06-17T14:32:46Z
dc.date.available2011-06-17T14:32:46Z
dc.date.issued2005-01-12en
dc.identifier.issn1465-5411
dc.identifier.urihttp://www.dspace.cam.ac.uk/handle/1810/238256
dc.description.abstractAbstract Introduction About two-thirds of the excess familial risk associated with breast cancer is still unaccounted for and may be explained by multiple weakly predisposing alleles. A gene thought to be involved in low-level predisposition to the disease is ERBB2 (HER2). This gene is involved in cell division, differentiation, and apoptosis and is frequently amplified in breast tumours. Its amplification correlates with poor prognosis. Moreover, the coding polymorphism I655V has previously been associated with an increased risk of breast cancer. Methods We aimed to determine if common polymorphisms (frequency ≥ 5%) in ERBB2 were associated with breast cancer risk in a white British population. Five single-nucleotide polymorphisms (SNPs) were selected for study: SNP 1 near the promoter, SNP 2 in intron 1, SNP 3 in intron 4, SNP 4 in exon 17 (I655V), and SNP 5 in exon 27 (A1170P). We tested their association with breast cancer in a large case–control study (n = 2192 cases and 2257 controls). Results There were no differences in genotype frequencies between cases and controls for any of the SNPs examined. To investigate the possibility that a common polymorphism not included in our study might be involved in breast cancer predisposition, we also constructed multilocus haplotypes. Our set of SNPs generated all existing (n = 6) common haplotypes and no differences were seen in haplotype frequencies between cases and controls (P = 0.44). Conclusions In our population, common ERBB2 polymorphisms are not involved in predisposition to breast cancer.
dc.languageEnglishen
dc.language.isoen
dc.titleCommon ERBB2polymorphisms and risk of breast cancer in a white British population: a case-control studyen
dc.typeArticle
dc.date.updated2011-06-17T14:32:46Z
dc.rights.holderBenusiglio et al.; licensee BioMed Central Ltd.
prism.publicationDate2005en
dcterms.dateAccepted2004-12-01en
rioxxterms.versionofrecord10.1186/bcr982en
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2005-01-12en
dc.contributor.orcidEaston, Douglas [0000-0003-2444-3247]
dc.contributor.orcidDunning, Alison [0000-0001-6651-7166]
dc.contributor.orcidPharoah, Paul [0000-0001-8494-732X]
dc.identifier.eissn1465-542X
rioxxterms.typeJournal Article/Reviewen


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