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dc.contributor.authorChacon Cortes, Diego
dc.contributor.authorSmith, Robert
dc.contributor.authorLea, Rodney
dc.contributor.authorYoul, Philippa
dc.contributor.authorGriffiths, Lyn
dc.date.accessioned2018-01-08T04:10:54Z
dc.date.available2018-01-08T04:10:54Z
dc.date.issued2015
dc.identifier.issn1010-4283
dc.identifier.doi10.1007/s13277-015-3200-1
dc.identifier.urihttp://hdl.handle.net/10072/101273
dc.description.abstractBreast cancer incidence and mortality rates are increasing despite our current knowledge on the disease. Ninety-five percent of breast cancer cases correspond to sporadic forms of the disease and are believed to involve an interaction between environmental and genetic determinants. The microRNA 17–92 cluster host gene (MIR17HG) has been shown to regulate expression of genes involved in breast cancer development and progression. Study of single-nucleotide polymorphisms (SNPs) located in this cluster gene could help provide a further understanding of its role in breast cancer. Therefore, this study investigated six SNPs in the MIR17HG using two independent Australian Caucasian case–control populations (GRC-BC and GU-CCQ BB populations) to determine association to breast cancer susceptibility. Genotyping was undertaken using chip-based matrix assisted laser desorption ionisation time-of-flight (MALDI-TOF) mass spectrometry (MS). We found significant association between rs4824505 and breast cancer at the allelic level in both study cohorts (GRC-BC p = 0.01 and GU-CCQ BB p = 0.03). Furthermore, haplotypic analysis of results from our combined population determined a significant association between rs4824505/rs7336610 and breast cancer susceptibility (p = 5 × 10−4). Our study is the first to show that the A allele of rs4824505 and the AC haplotype of rs4824505/rs7336610 are associated with risk of breast cancer development. However, definitive validation of this finding requires larger cohorts or populations in different ethnical backgrounds. Finally, functional studies of these SNPs could provide a deeper understanding of the role that MIR17HG plays in the pathophysiology of breast cancer.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherSpringer
dc.relation.ispartofpagefrom5369
dc.relation.ispartofpageto5376
dc.relation.ispartofissue7
dc.relation.ispartofjournalTumor Biology
dc.relation.ispartofvolume36
dc.subject.fieldofresearchClinical Sciences not elsewhere classified
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchcode110399
dc.subject.fieldofresearchcode1103
dc.titleAssociation of microRNA 17–92 cluster host gene (MIR17HG) polymorphisms with breast cancer
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.facultyGriffith Health, School of Medical Science
gro.hasfulltextNo Full Text
gro.griffith.authorGriffiths, Lyn
gro.griffith.authorLea, Rodney A.
gro.griffith.authorSmith, Robert A.
gro.griffith.authorYoul, Philippa
gro.griffith.authorChacon Cortes, Diego F.


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