A. Renzi

The tp73 gene polymorphism (rs4648551- a/a genotype) is related with reduction in the number of antral follicles

OBJECTIVE: BRCA1/2 gene mutation which is prevalent in the Ashkenazi Jewish population is associated with an increased risk for developing breast cancer and ovarian cancer. Few recent studies, have established a commonly accepted belief suggesting that BRCA mutations are associated with low ovarian reserve and poor response to ovarian stimulation, as well as early menopause. We aimed to evaluate a possible association between carriage of BRCA1/2 mutations and low ovarian reserve, as demonstrated by ART performance of BRCA mutation carriers. DESIGN: Multicenter retrospective study including BRCA mutation carriers who underwent COH for IVF between 2000 and 2012. Healthy and cancer patients were compared with controls. MATERIALS AND METHODS: The study group was divided into two sub-groups: (1) BRCA positive breast cancer patients, undergoing fertility preservation prior to chemotherapy, were compared with breast cancer patients whose BRCA mutation status was negative or unknown. (2) Healthy BRCA carriers, undergoing fertility treatment or IVF for PGD, were compared with male factor infertility patients and non-BRCA PGD patients. Patient’s age, cancer status, BRCA mutation status, stimulation data and ART outcomes were extracted from patients’ medical records. When more than one IVF cycle was recorded per patient, only the most favorable cycle (maximal oocytes yield) was included in analysis. Low response to COH was defined as retrieval of four or fewer oocytes per cycle. RESULTS: Fifty seven BRCA mutation carriers underwent 124 IVF cycles and 130 controls underwent 233 IVF cycles. A total of 187 best performed cycles were compared. Patients’ age, duration of stimulation and peak E2 levels were comparable between carriers and controls. Number of oocytes retrieved (15.00 8.06 vs. 14 8.24, p1⁄40.44), number of 2PN embryos (9.61 5.91 vs. 8.17 5.55, p1⁄40.077) and low response rate (8.77% versus 8.46%, p1⁄41) were also not significantly different. An age-stratified ( 37 years old) analysis indicated similar oocytes yield in each carriers subgroups and their corresponding age matched control subgroup. CONCLUSION: BRCA mutation carriers constitute a unique population of women who frequently utilize ART treatments, whether for fertility preservation prior to chemotherapy or for PGD. Contrary to previous publications described, our results provide reassuring data and confirm normal IVF performance among BRCA mutation carriers.