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dc.contributor.authorKerin, Michael J.
dc.contributor.authorMcVeigh, Terri
dc.contributor.authorDorairaj, Jemima J.
dc.contributor.authorHeneghan, Helen M.
dc.contributor.authorMiller, Nicola
dc.date.accessioned2014-01-23T09:05:13Z
dc.date.available2014-01-23T09:05:13Z
dc.date.issued2012
dc.identifier.citationPilarski, R,Patel, DA,Weitzel, J,McVeigh, T,Dorairaj, JJ,Heneghan, HM,Miller, N,Weidhaas, JB,Kerin, MJ,McKenna, M,Wu, XF,Hildebrandt, M,Zelterman, D,Sand, S,Shulman, LP (2012) 'The KRAS-Variant Is Associated with Risk of Developing Double Primary Breast and Ovarian Cancer'. Plos One, 7 (5).en_US
dc.identifier.urihttp://hdl.handle.net/10379/4000
dc.description.abstractPurpose: A germline microRNA binding site-disrupting variant, the KRAS-variant (rs61764370), is associated with an increased risk of developing several cancers. Because this variant is most strongly associated with ovarian cancer risk in patients from hereditary breast and ovarian families (HBOC), and with the risk of premenopausal triple negative breast cancer, we evaluated the association of the KRAS-variant with women with personal histories of both breast and ovarian cancer, referred to as double primary patients.Experimental Design: Germline DNA from double primary patients was tested for the KRAS-variant (n = 232). Confirmation of pathologic diagnoses, age of diagnoses, interval between ovarian cancer diagnosis and sample collection, additional cancer diagnoses, and family history were obtained when available. All patients were tested for deleterious BRCA mutations.Results: The KRAS-variant was significantly enriched in uninformative (BRCA negative) double primary patients, being found in 39% of patients accrued within two years of their ovarian cancer diagnosis. Furthermore, the KRAS-variant was found in 35% of uninformative double primary patients diagnosed with ovarian cancer post-menopausally, and was significantly associated with uninformative double primary patients with a positive family history. The KRAS-variant was also significantly enriched in uninformative patients who developed more then two primary cancers, being found in 48% of women with two breast primaries plus ovarian cancer or with triple primary cancers.Conclusions: These findings further validate the importance of the KRAS-variant in breast and ovarian cancer risk, and support the association of this variant as a genetic marker for HBOC families previously considered uninformative.en_US
dc.formatapplication/pdfen_US
dc.language.isoenen_US
dc.relation.ispartofPlos Oneen
dc.subjectCHEK2en_US
dc.subjectFamily-historyen_US
dc.subjectSiteen_US
dc.subjectBRCA2 mutationsen_US
dc.titleThe KRAS-Variant Is Associated with Risk of Developing Double Primary Breast and Ovarian Canceren_US
dc.typeArticleen_US
dc.date.updated2013-07-03T12:06:04Z
dc.identifier.doihttp://dx.doi.org/10.1371/journal.pone.0037891
dc.local.publishedsourcehttp://dx.doi.org/10.1371/journal.pone.0037891en_US
dc.description.peer-reviewedpeer-reviewed
dc.contributor.funder|~|
dc.internal.rssid2194742
dc.local.contactMichael Kerin, Dept. Of Surgery, Clinical Science Institute, Nui Galway. 87-4203 Email: michael.kerin@nuigalway.ie
dc.local.copyrightcheckedNo
dc.local.versionPUBLISHED
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