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dc.contributor.authorHuang, KT
dc.contributor.authorMikeska, T
dc.contributor.authorLi, J
dc.contributor.authorTakano, EA
dc.contributor.authorMillar, EKA
dc.contributor.authorGraham, PH
dc.contributor.authorBoyle, SE
dc.contributor.authorCampbell, IG
dc.contributor.authorSpeed, TP
dc.contributor.authorDobrovic, A
dc.contributor.authorFox, SB
dc.date.accessioned2020-12-22T03:05:53Z
dc.date.available2020-12-22T03:05:53Z
dc.date.issued2015-10-09
dc.identifierpii: 10.1186/s12885-015-1676-0
dc.identifier.citationHuang, K. T., Mikeska, T., Li, J., Takano, E. A., Millar, E. K. A., Graham, P. H., Boyle, S. E., Campbell, I. G., Speed, T. P., Dobrovic, A. & Fox, S. B. (2015). Assessment of DNA methylation profiling and copy number variation as indications of clonal relationship in ipsilateral and contralateral breast cancers to distinguish recurrent breast cancer from a second primary tumour. BMC CANCER, 15 (1), https://doi.org/10.1186/s12885-015-1676-0.
dc.identifier.issn1471-2407
dc.identifier.urihttp://hdl.handle.net/11343/257778
dc.description.abstractBACKGROUND: Patients with breast cancer have an increased risk of developing subsequent breast cancers. It is important to distinguish whether these tumours are de novo or recurrences of the primary tumour in order to guide the appropriate therapy. Our aim was to investigate the use of DNA methylation profiling and array comparative genomic hybridization (aCGH) to determine whether the second tumour is clonally related to the first tumour. METHODS: Methylation-sensitive high-resolution melting was used to screen promoter methylation in a panel of 13 genes reported as methylated in breast cancer (RASSF1A, TWIST1, APC, WIF1, MGMT, MAL, CDH13, RARβ, BRCA1, CDH1, CDKN2A, TP73, and GSTP1) in 29 tumour pairs (16 ipsilateral and 13 contralateral). Using the methylation profile of these genes, we employed a Bayesian and an empirical statistical approach to estimate clonal relationship. Copy number alterations were analysed using aCGH on the same set of tumour pairs. RESULTS: There is a higher probability of the second tumour being recurrent in ipsilateral tumours compared with contralateral tumours (38 % versus 8 %; p <0.05) based on the methylation profile. Using previously reported recurrence rates as Bayesian prior probabilities, we classified 69 % of ipsilateral and 15 % of contralateral tumours as recurrent. The inferred clonal relationship results of the tumour pairs were generally concordant between methylation profiling and aCGH. CONCLUSION: Our results show that DNA methylation profiling as well as aCGH have potential as diagnostic tools in improving the clinical decisions to differentiate recurrences from a second de novo tumour.
dc.languageEnglish
dc.publisherBMC
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleAssessment of DNA methylation profiling and copy number variation as indications of clonal relationship in ipsilateral and contralateral breast cancers to distinguish recurrent breast cancer from a second primary tumour
dc.typeJournal Article
dc.identifier.doi10.1186/s12885-015-1676-0
melbourne.affiliation.departmentSir Peter MacCallum Department of Oncology
melbourne.affiliation.departmentSurgery (Austin & Northern Health)
melbourne.affiliation.departmentSchool of Mathematics and Statistics
melbourne.affiliation.departmentClinical Pathology
melbourne.source.titleBMC Cancer
melbourne.source.volume15
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1012487
melbourne.contributor.authorMikeska, Thomas
melbourne.contributor.authorFox, Stephen
melbourne.contributor.authorDobrovic, Alexander
melbourne.contributor.authorCampbell, Ian
melbourne.contributor.authorHUANG, KATIE
melbourne.contributor.authorLi, Jason
melbourne.contributor.authorSpeed, Terence
dc.identifier.eissn1471-2407
melbourne.accessrightsOpen Access


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