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

doi:10.1186/s12916-021-02081-7

. 2021 Sep 10;19(1):205.

doi: 10.1186/s12916-021-02081-7.

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

Affiliations

¹ Fertility and Procreation Unit, Gynecologic Oncology Program, European Institute of Oncology IRCCS, Milan, Italy.
² Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), School of Medicine, University of Genova, Genova, Italy.
³ Academic Unit of Obstetrics and Gynaecology, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
⁴ Gynecologic Oncology Unit, IRCCS Istituto Tumori "Giovanni Paolo II", Bari, Italy.
⁵ Physiopathology of Human Reproduction Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
⁶ Department of Surgical Sciences, General Surgery III-Breast Surgery, Fondazione IRCCS Policlinico San Matteo, and Department of Clinical Surgical Sciences, University of Pavia, Pavia, Italy.
⁷ aBRCAdabra, National Patient Advocacy Association for carriers of BRCA genes mutation, Palermo, Italy.
⁸ ACTO Campania, Alleanza Contro il Tumore Ovarico, Avellino, Italy.
⁹ Department of Women's and Children's Health, "San Giuseppe Moscati" Hospital, Avellino, Italy.
¹⁰ Department of Internal Medicine and Medical Specialties (DiMI), School of Medicine, University of Genova, Genova, Italy. matteo.lambertini@unige.it.
¹¹ Department of Medical Oncology, UOC Clinica di Oncologia Medica, IRCCS Ospedale Policlinico San Martino, Genova, Italy. matteo.lambertini@unige.it.

^# Contributed equally.

PMID: 34503502
PMCID: PMC8431919
DOI: 10.1186/s12916-021-02081-7

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

Barbara Buonomo et al. BMC Med. 2021.

. 2021 Sep 10;19(1):205.

doi: 10.1186/s12916-021-02081-7.

Authors

Affiliations

¹ Fertility and Procreation Unit, Gynecologic Oncology Program, European Institute of Oncology IRCCS, Milan, Italy.
² Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), School of Medicine, University of Genova, Genova, Italy.
³ Academic Unit of Obstetrics and Gynaecology, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
⁴ Gynecologic Oncology Unit, IRCCS Istituto Tumori "Giovanni Paolo II", Bari, Italy.
⁵ Physiopathology of Human Reproduction Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
⁶ Department of Surgical Sciences, General Surgery III-Breast Surgery, Fondazione IRCCS Policlinico San Matteo, and Department of Clinical Surgical Sciences, University of Pavia, Pavia, Italy.
⁷ aBRCAdabra, National Patient Advocacy Association for carriers of BRCA genes mutation, Palermo, Italy.
⁸ ACTO Campania, Alleanza Contro il Tumore Ovarico, Avellino, Italy.
⁹ Department of Women's and Children's Health, "San Giuseppe Moscati" Hospital, Avellino, Italy.
¹⁰ Department of Internal Medicine and Medical Specialties (DiMI), School of Medicine, University of Genova, Genova, Italy. matteo.lambertini@unige.it.
¹¹ Department of Medical Oncology, UOC Clinica di Oncologia Medica, IRCCS Ospedale Policlinico San Martino, Genova, Italy. matteo.lambertini@unige.it.

^# Contributed equally.

PMID: 34503502
PMCID: PMC8431919
DOI: 10.1186/s12916-021-02081-7

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.

Keywords: BRCA; Cancer; Fertility; Oocyte cryopreservation; Ovarian reserve; Preimplantation genetic testing.

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Conflict of interest statement

Fedro A Peccatori received honoraria from Roche Diagnostic and Ipsen outside the submitted work. Matteo Lambertini acted as a consultant for Roche, AstraZeneca, Lilly, and Novartis and received speaker honoraria from Sandoz, Roche, Takeda, Pfizer, Lilly, and Novartis outside the submitted work. Fedro A Peccatori received honoraria from Roche Diagnostic and Ipsen outside the submitted work. All the other authors declare no conflicts of interest.

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References

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[1] Evans O, Gaba F, Manchanda R. Population-based genetic testing for Women’s cancer prevention. Best Pract Res Clin Obstet Gynaecol. 2020;65:139–153. doi: 10.1016/j.bpobgyn.2020.02.007. - DOI - PubMed

[2] Evans O, Gaba F, Manchanda R. Population-based genetic testing for Women’s cancer prevention. Best Pract Res Clin Obstet Gynaecol. 2020;65:139–153. doi: 10.1016/j.bpobgyn.2020.02.007. - DOI - PubMed

[3] Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402–2416. doi: 10.1001/jama.2017.7112. - DOI - PubMed

[4] Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402–2416. doi: 10.1001/jama.2017.7112. - DOI - PubMed

[5] Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer. Cardiff (UK): National Collaborating Centre for Cancer (UK); 2013. - PubMed

[6] Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer. Cardiff (UK): National Collaborating Centre for Cancer (UK); 2013. - PubMed

[7] Pothuri B. BRCA1- and BRCA2-related mutations: therapeutic implications in ovarian cancer. Ann Oncol. 2013;24(Suppl 8):viii22–viii27. doi: 10.1093/annonc/mdt307. - DOI - PubMed

[8] Pothuri B. BRCA1- and BRCA2-related mutations: therapeutic implications in ovarian cancer. Ann Oncol. 2013;24(Suppl 8):viii22–viii27. doi: 10.1093/annonc/mdt307. - DOI - PubMed

[9] González-Santiago S, Ramón Y, Cajal T, Aguirre E, et al. SEOM clinical guidelines in hereditary breast and ovarian cancer (2019) Clin Transl Oncol. 2020;22(2):193–200. doi: 10.1007/s12094-019-02262-0. - DOI - PubMed

[10] González-Santiago S, Ramón Y, Cajal T, Aguirre E, et al. SEOM clinical guidelines in hereditary breast and ovarian cancer (2019) Clin Transl Oncol. 2020;22(2):193–200. doi: 10.1007/s12094-019-02262-0. - DOI - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

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