Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers. Issue 1 (27th November 2019)

• Record Type: Journal Article
• Authors: Ponce, Jordi; Fernandez-Gonzalez, Sergi; Calvo, Iris; Climent, Maite; Peñafiel, Judith; Feliubadaló, Lidia; Teulé, Alex; Lázaro, Conxi; Brunet, Joan Maria; Candás-Estébanez, Beatriz; Durán Retamal, Montserrat
• Is Part Of: International journal of gynecological cancer. Volume 30:Issue 1(2020)
• Page Start: 83
• Page End: 88
• Publication Date: 2019-11-27
• Subjects: BCRA1 -- BCRA2 -- anti-Müllerian hormone -- ovarian reserve -- fertility -- reproduction; Generative organs, Female -- Cancer -- Periodicals; 616.99465
• DOI: 10.1136/ijgc-2019-000626
• Languages: English
• ISSNs: 1048-891X

Abstract

Abstract : Introduction: The clinical impact on fertility in carriers of BRCA1 and BRCA2 mutations remains unclear. The aim of this study was to assess ovarian reserve as measured by anti-mullerian hormone levels in BRCA1 or BRCA2 mutation carriers, as well as to investigate the impact of anti-mullerian hormone levels on reproductive outcomes. Methods: The study involved a cohort of women who tested positive for BRCA1 and BRCA2 screening or were tested for a BRCA1 or BRCA2 family mutation. Blood samples were collected for anti-mullerian hormone analysis and the reproductive outcomes were analyzed after a mean follow-up of 9 years. Participants were classified into BRCA mutation-positive versus BRCA mutation-negative. Controls were healthy relatives who tested negative for the family mutation. All patients were contacted by telephone to collect data on reproductive outcomes. Linear regression was used to predict anti-mullerian hormone levels by BRCA status adjusted for a polynomial form of age. Results: Results of anti-mullerian hormone analysis and reproductive outcomes were available for 135 women ( BRCA mutation-negative, n=66; BRCA1 mutation-positive, n=32; BRCA2 mutation-positive, n=37). Anti-mullerian hormone curves according to BRCA status and adjusted by age showed that BRCA2 mutation-positive patients have lower levels of anti-mullerian hormone as compared with BRCA -negative and BRCA1 mutation-positive. Among the women who tried to conceive, infertility was observed in 18.7% of BRCA mutation-negative women, in 22.2% of BRCA1 mutation-positive women, and in 30.8% of BRCA2 mutation-positive women (p=0.499). In the multivariable analysis, there were no factors independently associated with infertility. Discussion: BRCA2 mutation-positive carriers showed more diminished anti-mullerian hormone levels than BRCA1 mutation-positive and BRCA mutation-negative women. However, these differences do not appear to have a negative impact on reproductive outcome. This is important to consider at the time of reproductive counseling in women with BRCA1 or BRCA2 mutations.