Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , , , |
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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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 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
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 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
BMJ Publishing Group Ltd. |
publisher.none.fl_str_mv |
BMJ Publishing Group Ltd. |
dc.source.none.fl_str_mv |
reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia instacron:RCAAP |
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FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia |
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RCAAP |
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RCAAP |
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Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
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Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
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Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia |
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info@rcaap.pt |
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