PT  - JOURNAL ARTICLE
AU  - Jordi Ponce
AU  - Sergi Fernandez-Gonzalez
AU  - Iris Calvo
AU  - Maite Climent
AU  - Judith Peñafiel
AU  - Lidia Feliubadaló
AU  - Alex Teulé
AU  - Conxi Lázaro
AU  - Joan Maria Brunet
AU  - Beatriz Candás-Estébanez
AU  - Montserrat Durán Retamal
TI  - Assessment of ovarian reserve and reproductive outcomes in <em>BRCA1</em> or <em>BRCA2</em> mutation carriers
AID  - 10.1136/ijgc-2019-000626
DP  - 2020 Jan 01
TA  - International Journal of Gynecologic Cancer
PG  - 83--88
VI  - 30
IP  - 1
4099  - http://ijgc.bmj.com/content/30/1/83.short
4100  - http://ijgc.bmj.com/content/30/1/83.full
SO  - Int J Gynecol Cancer2020 Jan 01; 30
AB  - 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.