BRCA1 and BRCA2 mutations are responsible for a higher incidence of breast and ovarian cancer (from 55% up to 70% vs. 12% in the general population). If their functions have been widely investigated in the onset of these malignancies, still little is known about their role in fertility impairment. Cancer patients treated with antineoplastic drugs can be susceptible to their gonadotoxicity and, in women, some of them can induce apoptotic program in premature ovarian follicles, progressive depletion of ovarian reserve and, consequently, cancer treatment-related infertility (CTRI). BRCA variants seem to be associated with early infertility, thus accelerating treatment impairment of ovaries and making women face the concrete possibility of an early pregnancy. In this regard, fertility preservation (FP) procedures should be discussed in oncofertility counseling-from the first line of prevention with risk-reducing salpingo-oophorectomy (RRSO) to the new experimental ovarian stem cells (OSCs) model as a new way to obtain in vitro-differentiated oocytes, several techniques may represent a valid option to BRCA-mutated patients. In this review, we revisit knowledge about BRCA involvement in lower fertility, pregnancy feasibility, and the fertility preservation (FP) options available.
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http://dx.doi.org/10.3390/life14050615 | DOI Listing |
World J Surg Oncol
January 2025
Department of Gynecology, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, 210004, China.
Background: To assess the effectiveness of tumor biomarkers in distinguishing epithelial ovarian tumors (EOTs) and guiding clinical decisions across each Ovarian-Adnexal Reporting and Data System (O-RADS) MRI risk category, the aim is to prevent unnecessary surgeries for benign lesions, avoid delays in treating malignancies, and benefit individuals requiring fertility preservation or those intolerant to over-extensive surgery.
Methods: A total of 54 benign, 104 borderline, and 203 malignant EOTs (BeEOTs, BEOTs and MEOTs) were enrolled and retrospectively assigned risk scores. The role of tumor biomarkers in diagnosing and managing EOTs within each risk category was evaluated by combining receiver operating characteristic (ROC) curves with clinicopathological characteristics.
J Assist Reprod Genet
January 2025
Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Purpose: This study is to evaluate duration of oocyte cryostorage and association with thaw survival, fertilization, blastulation, ploidy rates, and pregnancy outcomes in patients seeking fertility preservation.
Methods: Retrospective cohort study to evaluate clinical outcomes in patients who underwent fertility preservation from 2011 to 2023 via oocyte vitrification for non-oncologic indications. Primary outcome was thaw survival rate.
Hum Reprod
January 2025
Pôle de Recherche en Physiopathologie de la Reproduction, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Brussels, Belgium.
Ovarian tissue cryopreservation and transplantation has emerged as a promising fertility preservation technique for individuals facing premature ovarian insufficiency due to various medical conditions or treatments. Xenotransplantation, involving the transplantation of ovarian tissue into animal hosts, has played a pivotal role in refining ovarian tissue cryopreservation and transplantation techniques and addressing key challenges. This review provides a comprehensive overview of the current landscape of ovarian tissue xenotransplantation research, focusing on its applications in investigating ovarian biology, optimizing ovarian tissue cryopreservation and transplantation protocols, and assessing safety concerns.
View Article and Find Full Text PDFClin Chem
January 2025
Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.
Methods: From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis.
Expert Rev Endocrinol Metab
January 2025
Department of OBGYN, Grossman School of Medicine, New York University, NY, USA.
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