Reproductive outcomes in women with BRCA 1/2 germline mutations: A retrospective observational study and literature review

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Objective: To evaluate the reproductive outcomes of patients bearing BRCA-1 and BRCA-2 mutations. Methods: In this retrospective observational cohort study, we assessed data from BRCA-1 and BRCA-2 carriers, analyzing demographics, oncological history, and reproductive outcomes. Statistical analysis compared BRCA-1 and BRCA-2 carriers. A thorough review of the literature was carried out. Results: Fifty-eight patients were included. BRCA-1 and BRCA-2 mutations were equally distributed. Eighty-nine pregnancies occurred in our series, hesitated in 73 live births and 19 miscarriages. Mean age at first and last pregnancy was 27.8 ± 4.8 and 31.6 ± 4.8 years old. Thirty-nine patients have had at least one live birth (67.2%). Mean number of live births was 1.9 ± 0.6. Live birth rate (LBR) was 81.1% and miscarriage rate was 32.8%. Spontaneous fertility was unaltered, as evidenced by high LBR. Subgroup analysis revealed no significant differences between BRCA-1 and BRCA-2 carriers. Conclusions: Our results shows that spontaneous reproductive outcomes in BRCA-mutated patients are reassuring. Despite evidence indicating a decrease in ovarian reserve among BRCA patients, this factor seems to not impact spontaneous fertility negatively. Further research is needed, and individuals with BRCA mutations should consider early family planning and fertility preservation in case of partner absence.
Despite evidence indicating a decrease in ovarian reserve among BRCA patients, this factor seems to not impact their spontaneous fertility negatively.

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: Reproductive outcomes in women with BRCA 1/2 germline mutations: A retrospective observational study and literature review ; volume:19 ; number:1 ; year:2024 ; extent:11
Open medicine ; 19, Heft 1 (2024) (gesamt 11)

Creator: Dellino, Miriam
D’Amato, Antonio
Battista, Gaia
Cormio, Gennaro
Vimercati, Antonella
Loizzi, Vera
Laganà, Antonio Simone
Damiani, Gianluca Raffaello
Favilli, Alessandro
Gerli, Sandro
La Forgia, Daniele
Daniele, Antonella
Agrifoglio, Vittorio
Cicinelli, Ettore
Vitagliano, Amerigo
Etrusco, Andrea

DOI: 10.1515/med-2024-9999

URN: urn:nbn:de:101:1-2408241537059.492061568703

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:31 AM CEST

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Dellino, Miriam
D’Amato, Antonio
Battista, Gaia
Cormio, Gennaro
Vimercati, Antonella
Loizzi, Vera
Laganà, Antonio Simone
Damiani, Gianluca Raffaello
Favilli, Alessandro
Gerli, Sandro
La Forgia, Daniele
Daniele, Antonella
Agrifoglio, Vittorio
Cicinelli, Ettore
Vitagliano, Amerigo
Etrusco, Andrea

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Reproductive outcomes in women with BRCA 1/2 germline mutations: A retrospective observational study and literature review

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