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01-12-2021 | Fertility | Correspondence

Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting

Authors: Barbara Buonomo, Claudia Massarotti, Miriam Dellino, Paola Anserini, Alberta Ferrari, Maria Campanella, Mirosa Magnotti, Cristofaro De Stefano, Fedro Alessandro Peccatori, Matteo Lambertini

Published in: BMC Medicine | Issue 1/2021

Abstract

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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Title: Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting
Authors: Barbara Buonomo
Claudia Massarotti
Miriam Dellino
Paola Anserini
Alberta Ferrari
Maria Campanella
Mirosa Magnotti
Cristofaro De Stefano
Fedro Alessandro Peccatori
Matteo Lambertini
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Fertility
Breast Cancer
Preimplantation Genetic Diagnostics
Breast Cancer
Published in: BMC Medicine / Issue 1/2021
Electronic ISSN: 1741-7015
DOI: https://doi.org/10.1186/s12916-021-02081-7

At a glance: The STEP trials

Springer Medicine

Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting

Abstract

Background

Main body

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Main body

Conclusion

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