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dc.contributor.authorThompson, ER
dc.contributor.authorGorringe, KL
dc.contributor.authorRowley, SM
dc.contributor.authorLi, N
dc.contributor.authorMcInerny, S
dc.contributor.authorWong-Brown, MW
dc.contributor.authorDevereux, L
dc.contributor.authorLi, J
dc.contributor.authorTrainer, AH
dc.contributor.authorMitchell, G
dc.contributor.authorScott, RJ
dc.contributor.authorJames, PA
dc.contributor.authorCampbell, IG
dc.date.accessioned2020-12-22T03:07:53Z
dc.date.available2020-12-22T03:07:53Z
dc.date.issued2015-10-12
dc.identifierpii: srep14800
dc.identifier.citationThompson, E. R., Gorringe, K. L., Rowley, S. M., Li, N., McInerny, S., Wong-Brown, M. W., Devereux, L., Li, J., Trainer, A. H., Mitchell, G., Scott, R. J., James, P. A. & Campbell, I. G. (2015). Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context. SCIENTIFIC REPORTS, 5 (1), https://doi.org/10.1038/srep14800.
dc.identifier.issn2045-2322
dc.identifier.urihttp://hdl.handle.net/11343/257786
dc.description.abstractThe breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A > T transversion in the final exon of the gene that leads to the creation of a stop codon 93 amino acids early (K3326*), is reported as a neutral polymorphism but there is some evidence to suggest an association with an increased risk of breast cancer. We assessed whether this variant was enriched in a cohort of breast cancer cases ascertained through familial cancer clinics compared to population-based non-cancer controls using a targeted sequencing approach. We identified the variant in 66/2634 (2.5%) cases and 33/1996 (1.65%) controls, indicating an enrichment in the breast cancer cases (p = 0.047, OR 1.53, 95% CI 1.00-2.34). This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk.
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleReevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context
dc.typeJournal Article
dc.identifier.doi10.1038/srep14800
melbourne.affiliation.departmentSir Peter MacCallum Department of Oncology
melbourne.affiliation.departmentMelbourne School of Population and Global Health
melbourne.affiliation.departmentMedicine (RMH)
melbourne.affiliation.departmentSurgery (RMH)
melbourne.affiliation.departmentMedicine (St Vincent's)
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleScientific Reports
melbourne.source.volume5
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1014349
melbourne.contributor.authorGorringe, Kylie
melbourne.contributor.authorTrainer, Alison
melbourne.contributor.authorMitchell, Gillian
melbourne.contributor.authorJames, Paul
melbourne.contributor.authorHopper, John
melbourne.contributor.authorFox, Stephen
melbourne.contributor.authorLi, Jason
melbourne.contributor.authorCampbell, Ian
melbourne.contributor.authorThompson, Ella
melbourne.contributor.authorDevereux, Lisa
melbourne.contributor.authorLi, Na
melbourne.contributor.authorMann, Gregory
dc.identifier.eissn2045-2322
melbourne.accessrightsOpen Access


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