Fertility and Pregnancy-Related Issues in Young BRCA Carriers With Breast Cancer

Isotta Martha Magaton; Luca Arecco; Elene Mariamidze; Kristina Jankovic; Mihaela Stana; Giulia Buzzatti; Lucia Trevisan; Graziana Scavone; Silvia Ottonello; Piero Fregatti; Claudia Massarotti; Michael von Wolff; Matteo Lambertini

doi:10.1177/11782234241261429

Fertility and Pregnancy-Related Issues in Young BRCA Carriers With Breast Cancer

Breast Cancer (Auckl). 2024 Jun 14:18:11782234241261429. doi: 10.1177/11782234241261429. eCollection 2024.

Authors

Isotta Martha Magaton^{1

2}, Luca Arecco³, Elene Mariamidze^{2

4}, Kristina Jankovic⁵, Mihaela Stana⁶, Giulia Buzzatti⁷, Lucia Trevisan⁷, Graziana Scavone², Silvia Ottonello⁸, Piero Fregatti^{9

10}, Claudia Massarotti^{11

12}, Michael von Wolff¹, Matteo Lambertini^{2

3}

Affiliations

¹ Division of Gynaecological Endocrinology and Reproductive Medicine, University Women's Hospital, Inselspital, Bern, Switzerland.
² Department of Medical Oncology, U.O.C. Clinica di Oncologia Medica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
³ Department of Internal Medicine and Medical Specialties (DIMI), School of Medicine, University of Genoa, Genoa, Italy.
⁴ Department of Medical Oncology & Hematology, Todua Clinic, Tbilisi, Georgien.
⁵ Department of Medical Oncology, University Clinic Center Nis, Nis, Serbia.
⁶ Department of Medical Oncology, Elysee Hospital, Alba Iulia, Romania.
⁷ Department of Medical Oncology, Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
⁸ Departent of Experimental Medicine (DIMES), University of Genoa, Genoa, Italy.
⁹ Department of Surgery, U.O.C. Clinica di Chirurgia Senologica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
¹⁰ Department of Surgical Sciences and Integrated Diagnostic (DISC), School of Medicine, University of Genoa, Genoa, Italy.
¹¹ Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI Department), University of Genoa, Genoa, Italy.
¹² Academic Unit of Obstetrics and Gynecology, Maternal-Child Department, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.

Abstract

Approximately 10% to 15% of breast cancer cases in young women are diagnosed in patients harbouring germline (g) pathogenic or likely pathogenic variants (PVs) in the BReast CAncer 1 (BRCA1) or BReast CAncer 2 (BRCA2) genes. Preclinical and clinical studies showed a potential negative effect of germline BRCA1/2 (gBRCA1/2) PVs on ovarian reserve and reproductive potential, even before starting anticancer therapies. The aim of this article is to summarize the current literature on the fertility potential of young gBRCA1/2 PVs carriers with breast cancer and the risk of gonadotoxicity associated with anticancer treatments. Moreover, we describe the available evidence on the efficacy of fertility preservation techniques in young gBRCA1/2 PVs carriers and the safety data on having a pregnancy after breast cancer treatment.

Keywords: Germline BRCA1/2 pathogenic variants; anti-Müllerian hormone; fertility; oncofertility; pregnancy.

Publication types

Review