Abstract
PurposeTo determine the impact of BRCA1 and BRCA2 mutations on ovarian reserve and fertility preservation outcome. The main purpose and research question of the study is to determine the impact of BRCA1 and BRCA2 mutations on ovarian reserve and fertility preservation outcomes.MethodsProspective study: 67 breast cancer patients between 18 and 40 years old, undergoing a fertility preservation by means of oocyte storage were considered. Inclusions criteria for the study were age between 18 and 40 years old, BMI between 18 and 28, breast cancer neoplasm stage I and II according to American Joint Committee on Cancer classification (2017) and no metastasis. Exclusion criteria: age over 40 years old, BMI < 18 and > 28, breast cancer neoplasm stage III and IV and do not performed the BRCA test. A total of 21 patients had not performed the test and were excluded. Patients were divided into four groups: Group A was composed by 11 breast cancer patients with BRCA 1 mutations, Group B was composed by 11 breast cancer patients with BRCA 2 mutations, Group C was composed by 24 women with breast cancer without BRCA mutations, and Group D (control) was composed by 181 normal women.ResultsGroup A showed significant lower AMH levels compared to Group C and D (1.2 ± 1.1 vs 4.5 ± 4.1 p < 0.05 and 1.2 ± 1.1 vs 3.8 ± 2.5 p < 0.05). BRCA1 mutated patients showed a significant lower rate of mature oocytes (MII) compared to Group C (3.1 ± 2.3 vs 7.2 ± 4.4 p < 0,05) and Group D (3.1 ± 2.3 vs 7.3 ± 3.4; p < 0,05). Breast cancer patients needed a higher dose of gonadotropins compared to controls (Group A 2206 ± 1392 Group B2047.5 ± 829.9 Group C 2106 ± 1336 Group D 1597 ± 709 p < 0,05). No significant differences were found among the groups considering basal FSH levels, duration of stimulation, number of developed follicles, and number of total retrieved oocytes. Regarding BRCA2 mutation, no effect on fertility was shown in this study.ConclusionsThe study showed that BRCA1 patients had a higher risk of premature ovarian insufficiency (POI) confirmed by a diminished ovarian reserve and a lower number of mature oocytes suitable for cryopreservation.
Highlights
Recent studies suggest the possibility that BRCA1 and BRCA2 genes may be involved in fertility [1,2,3,4]
Patients were divided into four groups: Group A was composed by 11 BRCA1-mutated breast cancer patients, Group B was composed by 11 BRCA 2 mutated breast cancer patients, Group C was composed by 24 breast cancer patients who performed the genetic test and resulted negative (Fig. 1)
The present study showed that BRCA 1 patients have a higher risk of premature ovarian failure confirmed by a diminished ovarian reserve, sustained by a lower AMH and a lower mature oocytes’yield
Summary
Recent studies suggest the possibility that BRCA1 and BRCA2 genes may be involved in fertility [1,2,3,4]. Premature ovarian insufficiency (POI) affects 1 out of 100 women over the age of 40 and 1 in 1000 woman younger than 30 years old [7]. Welt et al [8] suggested that POI represents an ovarian condition that passes through an “occult” clinical state (reduced fertility with normal FSH levels and regular menstruation) to a “biochemical” (reduced fertility, high but not menopausal FSH levels and regular menstrual cycle) until an “over” state occurs (corresponding to the POI final state).
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