Please use this identifier to cite or link to this item: https://doi.org/10.1007/s10549-021-06185-9
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dc.titleDNA methylation and breast cancer-associated variants
dc.contributor.authorHo, Peh Joo
dc.contributor.authorDorajoo, Rajkumar
dc.contributor.authorIvankovic, Ivna
dc.contributor.authorOng, Seeu Si
dc.contributor.authorKhng, Alexis Jiaying
dc.contributor.authorTan, Benita Kiat-Tee
dc.contributor.authorTan, Veronique Kiak Mien
dc.contributor.authorLim, Swee Ho
dc.contributor.authorTan, Ern Yu
dc.contributor.authorTan, Su-Ming
dc.contributor.authorTan, Qing Ting
dc.contributor.authorYan, Zhiyan
dc.contributor.authorNgeow, Joanne
dc.contributor.authorSim, Yirong
dc.contributor.authorChan, Patrick
dc.contributor.authorChuan, Juliana Chen Jia
dc.contributor.authorChan, Ching Wan
dc.contributor.authorTang, Siau Wei
dc.contributor.authorHartman, Mikael
dc.contributor.authorLi, Jingmei
dc.date.accessioned2021-11-26T14:22:10Z
dc.date.available2021-11-26T14:22:10Z
dc.date.issued2021-03-26
dc.identifier.citationHo, Peh Joo, Dorajoo, Rajkumar, Ivankovic, Ivna, Ong, Seeu Si, Khng, Alexis Jiaying, Tan, Benita Kiat-Tee, Tan, Veronique Kiak Mien, Lim, Swee Ho, Tan, Ern Yu, Tan, Su-Ming, Tan, Qing Ting, Yan, Zhiyan, Ngeow, Joanne, Sim, Yirong, Chan, Patrick, Chuan, Juliana Chen Jia, Chan, Ching Wan, Tang, Siau Wei, Hartman, Mikael, Li, Jingmei (2021-03-26). DNA methylation and breast cancer-associated variants. BREAST CANCER RESEARCH AND TREATMENT 188 (3) : 713-727. ScholarBank@NUS Repository. https://doi.org/10.1007/s10549-021-06185-9
dc.identifier.issn01676806
dc.identifier.issn15737217
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/208338
dc.description.abstractBackground: A breast cancer polygenic risk score (PRS) comprising 313 common variants reliably predicts disease risk. We examined possible relationships between genetic variation, regulation, and expression to clarify the molecular alterations associated with these variants. Methods: Genome-wide methylomic variation was quantified (MethylationEPIC) in Asian breast cancer patients (1152 buffy coats from peripheral whole blood). DNA methylation (DNAm) quantitative trait loci (mQTL) mapping was performed for 235 of the 313 variants with minor allele frequencies > 5%. Stability of identified mQTLs (p < 5e-8) across lifetime was examined using a public mQTL database. Identified mQTLs were also mapped to expression quantitative trait loci (eQTLs) in the Genotype-Tissue Expression Project and the eQTLGen Consortium. Results: Breast cancer PRS was not associated with DNAm. A higher proportion of significant cis-mQTLs were observed. Of 822 significant cis-mQTLs (179 unique variants) identified in our dataset, 141 (59 unique variants) were significant (p < 5e-8) in a public mQTL database. Eighty-six percent (121/141) of the matched mQTLs were consistent at multiple time points (birth, childhood, adolescence, pregnancy, middle age, post-diagnosis, or treatment). Ninety-three variants associated with DNAm were also cis-eQTLs (35 variants not genome-wide significant). Multiple loci in the breast cancer PRS are associated with DNAm, contributing to the polygenic nature of the disease. These mQTLs are mostly stable over time. Conclusions: Consistent results from DNAm and expression data may reveal new candidate genes not previously associated with breast cancer.
dc.language.isoen
dc.publisherSPRINGER
dc.sourceElements
dc.subjectScience & Technology
dc.subjectLife Sciences & Biomedicine
dc.subjectOncology
dc.subjectMQTL
dc.subjectMethylationEPIC
dc.subjectDNA methylation
dc.subjectBreast cancer
dc.subjectPolygenic risk score
dc.subjectGenome-wide association study
dc.typeArticle
dc.date.updated2021-11-25T17:06:15Z
dc.contributor.departmentDEAN'S OFFICE (DUKE-NUS MEDICAL SCHOOL)
dc.contributor.departmentDEPT OF SURGERY
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.contributor.departmentEPIDEMIOLOGY & PUBLIC HEALTH
dc.description.doi10.1007/s10549-021-06185-9
dc.description.sourcetitleBREAST CANCER RESEARCH AND TREATMENT
dc.description.volume188
dc.description.issue3
dc.description.page713-727
dc.published.statePublished
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