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Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting
BACKGROUND: Healthy individuals and patients with cancer who are carriers of germline pathogenic variants in the BRCA1/2 genes face multiple reproductive challenges that require appropriate counseling and specific expertise. MAIN BODY: On December 5th–7th, 2019, patient advocates and physicians with...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431919/ https://www.ncbi.nlm.nih.gov/pubmed/34503502 http://dx.doi.org/10.1186/s12916-021-02081-7 |
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author | Buonomo, Barbara Massarotti, Claudia Dellino, Miriam Anserini, Paola Ferrari, Alberta Campanella, Maria Magnotti, Mirosa De Stefano, Cristofaro Peccatori, Fedro Alessandro Lambertini, Matteo |
author_facet | Buonomo, Barbara Massarotti, Claudia Dellino, Miriam Anserini, Paola Ferrari, Alberta Campanella, Maria Magnotti, Mirosa De Stefano, Cristofaro Peccatori, Fedro Alessandro Lambertini, Matteo |
author_sort | Buonomo, Barbara |
collection | PubMed |
description | BACKGROUND: Healthy individuals and patients with cancer who are carriers of germline pathogenic variants in the BRCA1/2 genes face multiple reproductive challenges that require appropriate counseling and specific expertise. MAIN BODY: On December 5th–7th, 2019, patient advocates and physicians with expertise in the field of reproductive medicine, fertility preservation, and oncology were invited to “San Giuseppe Moscati” Hospital in Avellino (Italy) for a workshop on reproductive management of women with germline pathogenic variants in the BRCA1/2 genes. From the discussion regarding the current evidence and future prospective in the field, eight main research questions were formulated and eight recommendations were developed regarding fertility, fertility preservation, preimplantation genetic testing, and pregnancy in healthy carriers and patients with cancer. CONCLUSION: Several misconceptions about the topic persist among health care providers and patients often resulting in a discontinuous and suboptimal management. With the aim to offer patient-tailored counseling about reproductive issues, both awareness of current evidences and research should be promoted. |
format | Online Article Text |
id | pubmed-8431919 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-84319192021-09-10 Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting Buonomo, Barbara Massarotti, Claudia Dellino, Miriam Anserini, Paola Ferrari, Alberta Campanella, Maria Magnotti, Mirosa De Stefano, Cristofaro Peccatori, Fedro Alessandro Lambertini, Matteo BMC Med Correspondence BACKGROUND: Healthy individuals and patients with cancer who are carriers of germline pathogenic variants in the BRCA1/2 genes face multiple reproductive challenges that require appropriate counseling and specific expertise. MAIN BODY: On December 5th–7th, 2019, patient advocates and physicians with expertise in the field of reproductive medicine, fertility preservation, and oncology were invited to “San Giuseppe Moscati” Hospital in Avellino (Italy) for a workshop on reproductive management of women with germline pathogenic variants in the BRCA1/2 genes. From the discussion regarding the current evidence and future prospective in the field, eight main research questions were formulated and eight recommendations were developed regarding fertility, fertility preservation, preimplantation genetic testing, and pregnancy in healthy carriers and patients with cancer. CONCLUSION: Several misconceptions about the topic persist among health care providers and patients often resulting in a discontinuous and suboptimal management. With the aim to offer patient-tailored counseling about reproductive issues, both awareness of current evidences and research should be promoted. BioMed Central 2021-09-10 /pmc/articles/PMC8431919/ /pubmed/34503502 http://dx.doi.org/10.1186/s12916-021-02081-7 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Correspondence Buonomo, Barbara Massarotti, Claudia Dellino, Miriam Anserini, Paola Ferrari, Alberta Campanella, Maria Magnotti, Mirosa De Stefano, Cristofaro Peccatori, Fedro Alessandro Lambertini, Matteo Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting |
title | Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting |
title_full | Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting |
title_fullStr | Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting |
title_full_unstemmed | Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting |
title_short | Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting |
title_sort | reproductive issues in carriers of germline pathogenic variants in the brca1/2 genes: an expert meeting |
topic | Correspondence |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431919/ https://www.ncbi.nlm.nih.gov/pubmed/34503502 http://dx.doi.org/10.1186/s12916-021-02081-7 |
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