Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast

Detalhes bibliográficos
Autor(a) principal: da Silva, Edaise M.
Data de Publicação: 2020
Outros Autores: Beca, Francisco, Sebastião, Ana Paula Martins, Murray, Melissa P., Silveira, Catarina, da Cruz Paula, Arnaud, Pareja, Fresia, Wen, Hannah Y., D'Alfonso, Timothy M., Edelweiss, Marcia, Weigelt, Britta, Brogi, Edi, Reis Filho, Jorge S., Zhang, Hong
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: http://hdl.handle.net/10451/47536
Resumo: © 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/.
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spelling Stromal MED12 exon 2 mutations in complex fibroadenomas of the breastBreastBreast neoplasmsMolecularPathology© 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/.Aims: 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.This 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).BMJ Publishing Group Ltd.Repositório da Universidade de Lisboada Silva, Edaise M.Beca, FranciscoSebastião, Ana Paula MartinsMurray, Melissa P.Silveira, Catarinada Cruz Paula, ArnaudPareja, FresiaWen, Hannah Y.D'Alfonso, Timothy M.Edelweiss, MarciaWeigelt, BrittaBrogi, EdiReis Filho, Jorge S.Zhang, Hong2021-04-23T16:17:39Z20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/47536engJ Clin Pathol. 2020 Dec 29:jclinpath-2020-2070620021-974610.1136/jclinpath-2020-2070621472-4146info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-17T14:32:40Zoai:repositorio.ulisboa.pt:10451/47536Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T03:14:36.657286Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
title Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
spellingShingle Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
da Silva, Edaise M.
Breast
Breast neoplasms
Molecular
Pathology
title_short Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
title_full Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
title_fullStr Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
title_full_unstemmed Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
title_sort Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
author da Silva, Edaise M.
author_facet da Silva, Edaise M.
Beca, Francisco
Sebastião, Ana Paula Martins
Murray, Melissa P.
Silveira, Catarina
da Cruz Paula, Arnaud
Pareja, Fresia
Wen, Hannah Y.
D'Alfonso, Timothy M.
Edelweiss, Marcia
Weigelt, Britta
Brogi, Edi
Reis Filho, Jorge S.
Zhang, Hong
author_role author
author2 Beca, Francisco
Sebastião, Ana Paula Martins
Murray, Melissa P.
Silveira, Catarina
da Cruz Paula, Arnaud
Pareja, Fresia
Wen, Hannah Y.
D'Alfonso, Timothy M.
Edelweiss, Marcia
Weigelt, Britta
Brogi, Edi
Reis Filho, Jorge S.
Zhang, Hong
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv da Silva, Edaise M.
Beca, Francisco
Sebastião, Ana Paula Martins
Murray, Melissa P.
Silveira, Catarina
da Cruz Paula, Arnaud
Pareja, Fresia
Wen, Hannah Y.
D'Alfonso, Timothy M.
Edelweiss, Marcia
Weigelt, Britta
Brogi, Edi
Reis Filho, Jorge S.
Zhang, Hong
dc.subject.por.fl_str_mv Breast
Breast neoplasms
Molecular
Pathology
topic Breast
Breast neoplasms
Molecular
Pathology
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/.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01T00:00:00Z
2021-04-23T16:17:39Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/47536
url http://hdl.handle.net/10451/47536
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Clin Pathol. 2020 Dec 29:jclinpath-2020-207062
0021-9746
10.1136/jclinpath-2020-207062
1472-4146
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
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