Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting
Barbara Buonomo,
Claudia Massarotti,
Miriam Dellino,
Paola Anserini,
Alberta Ferrari,
Maria Campanella,
Mirosa Magnotti,
Cristofaro De Stefano,
Fedro Alessandro Peccatori,
Matteo Lambertini
Affiliations
Barbara Buonomo
Fertility and Procreation Unit, Gynecologic Oncology Program, European Institute of Oncology IRCCS
Claudia Massarotti
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), School of Medicine, University of Genova
Miriam Dellino
Gynecologic Oncology Unit, IRCCS Istituto Tumori “Giovanni Paolo II”
Paola Anserini
Physiopathology of Human Reproduction Unit, IRCCS Ospedale Policlinico San Martino
Alberta Ferrari
Department of Surgical Sciences, General Surgery III-Breast Surgery, Fondazione IRCCS Policlinico San Matteo, and Department of Clinical Surgical Sciences, University of Pavia
Maria Campanella
aBRCAdabra, National Patient Advocacy Association for carriers of BRCA genes mutation
Mirosa Magnotti
ACTO Campania, Alleanza Contro il Tumore Ovarico
Cristofaro De Stefano
Department of Women’s and Children’s Health, “San Giuseppe Moscati” Hospital
Fedro Alessandro Peccatori
Fertility and Procreation Unit, Gynecologic Oncology Program, European Institute of Oncology IRCCS
Matteo Lambertini
Department of Internal Medicine and Medical Specialties (DiMI), School of Medicine, University of Genova
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.
