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Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma
Type 1 multiple endocrine neoplasia (MEN-1) syndrome is an autosomal dominant disease, associated with germline mutations in the MEN-1 tumour suppressor gene (encoding the menin protein). Recent studies, through a better characterisation of the functions of the menin protein, have started to demonst...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754650/ https://www.ncbi.nlm.nih.gov/pubmed/33370954 http://dx.doi.org/10.1136/bcr-2020-238784 |
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author | Maria, Bernardo Conde Quadros, Ana Catarina Alves, Natália Coutinho, João |
author_facet | Maria, Bernardo Conde Quadros, Ana Catarina Alves, Natália Coutinho, João |
author_sort | Maria, Bernardo Conde |
collection | PubMed |
description | Type 1 multiple endocrine neoplasia (MEN-1) syndrome is an autosomal dominant disease, associated with germline mutations in the MEN-1 tumour suppressor gene (encoding the menin protein). Recent studies, through a better characterisation of the functions of the menin protein, have started to demonstrate how changes in this protein may be related to breast cancer. We present the case of a patient whose diagnosis of MEN-1 syndrome was made during treatment for a breast tumour—this diagnosis was obtained after finding multiple neoplastic lesions that fitted the MEN-1 syndrome spectrum, during the initial staging and subsequent follow-up of a breast tumour. In line with the growing evidence that links MEN-1 syndrome to breast cancer tumorigenesis, this case report highlights the following question: should we start screening this subset of patients earlier for breast cancer? |
format | Online Article Text |
id | pubmed-7754650 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-77546502020-12-29 Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma Maria, Bernardo Conde Quadros, Ana Catarina Alves, Natália Coutinho, João BMJ Case Rep Case Report Type 1 multiple endocrine neoplasia (MEN-1) syndrome is an autosomal dominant disease, associated with germline mutations in the MEN-1 tumour suppressor gene (encoding the menin protein). Recent studies, through a better characterisation of the functions of the menin protein, have started to demonstrate how changes in this protein may be related to breast cancer. We present the case of a patient whose diagnosis of MEN-1 syndrome was made during treatment for a breast tumour—this diagnosis was obtained after finding multiple neoplastic lesions that fitted the MEN-1 syndrome spectrum, during the initial staging and subsequent follow-up of a breast tumour. In line with the growing evidence that links MEN-1 syndrome to breast cancer tumorigenesis, this case report highlights the following question: should we start screening this subset of patients earlier for breast cancer? BMJ Publishing Group 2020-12-21 /pmc/articles/PMC7754650/ /pubmed/33370954 http://dx.doi.org/10.1136/bcr-2020-238784 Text en © BMJ Publishing Group Limited 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/ 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 and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/. |
spellingShingle | Case Report Maria, Bernardo Conde Quadros, Ana Catarina Alves, Natália Coutinho, João Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma |
title | Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma |
title_full | Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma |
title_fullStr | Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma |
title_full_unstemmed | Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma |
title_short | Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma |
title_sort | incidental finding of men-1 syndrome during staging and follow-up of breast carcinoma |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754650/ https://www.ncbi.nlm.nih.gov/pubmed/33370954 http://dx.doi.org/10.1136/bcr-2020-238784 |
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