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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...

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Autores principales: Buonomo, Barbara, Massarotti, Claudia, Dellino, Miriam, Anserini, Paola, Ferrari, Alberta, Campanella, Maria, Magnotti, Mirosa, De Stefano, Cristofaro, Peccatori, Fedro Alessandro, Lambertini, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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.
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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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