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Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast

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dc.contributor.authorda Silva, Edaise M.
dc.contributor.authorBeca, Francisco
dc.contributor.authorSebastião, Ana Paula Martins
dc.contributor.authorMurray, Melissa P.
dc.contributor.authorSilveira, Catarina
dc.contributor.authorda Cruz Paula, Arnaud
dc.contributor.authorPareja, Fresia
dc.contributor.authorWen, Hannah Y.
dc.contributor.authorD'Alfonso, Timothy M.
dc.contributor.authorEdelweiss, Marcia
dc.contributor.authorWeigelt, Britta
dc.contributor.authorBrogi, Edi
dc.contributor.authorReis Filho, Jorge S.
dc.contributor.authorZhang, Hong
dc.date.accessioned2021-04-23T16:17:39Z
dc.date.available2021-04-23T16:17:39Z
dc.date.issued2020
dc.description© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.pt_PT
dc.description.abstractAims: Here we explore the presence of mediator complex subunit 12 (MED12) exon 2 and telomerase reverse transcriptase (TERT) promoter hotspot mutations in complex fibroadenomas (CFAs) of the breast. Methods: The stromal components from 18 CFAs were subjected to Sanger sequencing of MED12 exon 2 and the TERT promoter hotspot loci. The epithelial and stromal components of two MED12 mutated CFAs were subjected to laser capture microdissection, and Sanger sequencing of MED12 exon 2, TERT promoter and PIK3CA exons 9 and 20, separately. Results: MED12 exon 2 mutations were identified in the stroma of 17% of CFAs. The analyses of epithelial and stromal components, microdissected separately, revealed that MED12 mutations were restricted to the stroma. No TERT promoter or PIK3CA mutations in exons 9 and 20 were detected in analysed CFAs. Conclusions: Like conventional fibroadenomas, MED12 exon 2 mutations appear to be restricted to the stromal component of CFAs, supporting the notion that CFAs are stromal neoplasms.pt_PT
dc.description.sponsorshipThis study was funded by the Breast Cancer Research Foundation. BW is funded by a Cycle for Survival grant, CS by a Fundação para a Ciência e Tecnologia grant (SFRH/BDE/110544/2015). FP is partially funded by a K12 CA184746 grant. The research reported in this paper was supported in part by a Cancer Centre Support Grant of the National Institutes of Health/National Cancer Institute (grant No P30CA008748).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Clin Pathol. 2020 Dec 29:jclinpath-2020-207062pt_PT
dc.identifier.doi10.1136/jclinpath-2020-207062pt_PT
dc.identifier.eissn1472-4146
dc.identifier.issn0021-9746
dc.identifier.urihttp://hdl.handle.net/10451/47536
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMJ Publishing Group Ltd.pt_PT
dc.relationGenotyping circulating tumor DNA for Precision Oncology
dc.relation.publisherversionhttps://jcp.bmj.com/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectBreastpt_PT
dc.subjectBreast neoplasmspt_PT
dc.subjectMolecularpt_PT
dc.subjectPathologypt_PT
dc.titleStromal MED12 exon 2 mutations in complex fibroadenomas of the breastpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardNumberSFRH/BDE/110544/2015
oaire.awardTitleGenotyping circulating tumor DNA for Precision Oncology
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/SFRH%2FBDE%2F110544%2F2015/PT
oaire.citation.titleJournal of Clinical Pathologypt_PT
oaire.fundingStreamOE
person.familyNameSilveira
person.givenNameCatarina
person.identifier.ciencia-idAE1A-816F-B33A
person.identifier.orcid0000-0002-4693-1316
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication8f3d6a77-443b-4a4a-adf5-bd562d328d3e
relation.isAuthorOfPublication.latestForDiscovery8f3d6a77-443b-4a4a-adf5-bd562d328d3e
relation.isProjectOfPublication74ff8fa7-ce4a-4589-af3e-c0198949bbb9
relation.isProjectOfPublication.latestForDiscovery74ff8fa7-ce4a-4589-af3e-c0198949bbb9

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