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Analysis of epigenetic alterations in homologous recombination dna repair genes in male breast cancer

2020-04Artigo científico Acesso aberto
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dc.contributor.authorAndré, Saudade
dc.contributor.authorNunes, Sandra P.
dc.contributor.authorSilva, Fernanda
dc.contributor.authorHenrique, Rui
dc.contributor.authorFélix, Ana
dc.contributor.authorJerónimo, Carmen
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblMDPI - Multidisciplinary Digital Publishing Institute
dc.date.accessioned2020-04-27T22:32:04Z
dc.date.available2020-04-27T22:32:04Z
dc.date.issued2020-04
dc.description.abstractBackground: Male breast cancer (BC) is a distinct neoplasm with low but rising incidence, frequently diagnosed as advanced stage disease. Considering the relevance of altered homologous recombination repair (HRR) in male BC, we aimed to explore the biomarker potential of aberrant promoter methylation of ATM, BRCA1, PALB2, RAD51B, and XRCC3. Methods: Formalin-fixed paraffin-embedded (FFPE) tissue samples from 128 male BC patients, paired adjacent normal tissue and 19 gynecomastia cases were collected and assessed by quantitative methylation-specific PCR (qMSP). Non-parametric tests were used to compare methylation levels between tumor and non-tumor samples and to seek for associations with clinicopathological variables. Results: Only RAD51B and XRCC3 disclosed significant differences between tumor and gynecomastia (p < 0.0001 and p = 0.020, respectively). Assembled in a panel, RAD51B and XRCC3 promoter methylation discriminated male BC from gynecomastia with 91.5% sensitivity, 89.5% specificity, and 91.2% accuracy. Moreover, promoter methylation levels were lower in paired non-tumor tissues, comparing to tumor samples. No associations were found between epigenetic alterations and clinicopathological features, as well as with RAD51 and XRCC3 immunoexpression and methylation levels. Conclusion: Quantitative promoter methylation of RAD51B and XRCC3 constitutes a promising and accurate biomarker for male BC. Validation in larger series and in liquid biopsies is warranted to confirm its usefulness in detection and monitoring settings.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent2181319
dc.identifier.doi10.3390/ijms21082715
dc.identifier.issn1661-6596
dc.identifier.otherPURE: 17934062
dc.identifier.otherPURE UUID: bd854c98-796d-4bc4-9499-a47c7914c8b8
dc.identifier.otherScopus: 85083376515
dc.identifier.otherPubMed: 32295201
dc.identifier.otherORCID: /0000-0002-2653-2262/work/73093572
dc.identifier.otherWOS: 000535565300057
dc.identifier.urihttp://hdl.handle.net/10362/96874
dc.identifier.urlhttps://www.scopus.com/pages/publications/85083376515
dc.language.isoeng
dc.peerreviewedyes
dc.subjectDetection
dc.subjectEpigenetics
dc.subjectHomologous recombination DNA repair
dc.subjectMale breast cancer
dc.subjectCatalysis
dc.subjectMolecular Biology
dc.subjectSpectroscopy
dc.subjectComputer Science Applications
dc.subjectPhysical and Theoretical Chemistry
dc.subjectOrganic Chemistry
dc.subjectInorganic Chemistry
dc.subjectSDG 3 - Good Health and Well-being
dc.titleAnalysis of epigenetic alterations in homologous recombination dna repair genes in male breast canceren
dc.typejournal article
degois.publication.issue8
degois.publication.titleInternational Journal of Molecular Sciences
degois.publication.volume21
dspace.entity.typePublication
rcaap.rightsopenAccess

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