BRCA1/2 genes mutations, ovarian reserve and female reproductive outcomes: a systematic review of the literature

Merlino, Lucia; Chinè, Alessandra; Galli, Cecilia; Piccioni, Maria Grazia

doi:10.23736/s0026-4784.20.04624-9

Cited by 2 publications

(2 citation statements)

References 60 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another reason to advise women carrying pathogenic BRCA1/2 mutations to complete reproductive life as early as possible is the concern, although controversial, that these pathogenic mutations can decrease the ovarian reserve in healthy carriers. 66 Healthy women and cancer patients carrying pathogenic BRCA1/2 mutations can safely undergo fertility preservation by oocyte or embryo cryopreservation, but not ovarian tissue preservation, and data also showed that treatment of infertility, including IVF, can be safely implemented. 63,67 https://doi.org/10.2147/OTT.S369844…”

Section: Fertility and Reproductionmentioning

confidence: 99%

See 1 more Smart Citation

Management Strategies of Breast Cancer Patients with BRCA1 and BRCA2 Pathogenic Germline Variants

Edaily¹,

Abdel‐Razeq²

2022

OTT

View full text Add to dashboard Cite

Most of breast cancer cases are sporadic; however, 15-20% are associated with family history, and some are inherited. Among those, deleterious mutations in BRCA1 and BRCA2 tumor suppressor genes are the most commonly encountered pathogenic germline variants (PGVs). Given the availability and affordability of multi-gene panel sequencing technologies, testing for PGVs is commonly practiced. With our enhanced understanding of cancer genetics and specific molecular alterations, the better acceptance of risk-directed screening and prevention, and the recent introduction of novel targeted therapies, management of BRCA-positive breast cancers is taking a new direction, focusing more on risk-reducing interventions, including mastectomy and salpingo-oophorectomy, and incorporating special treatment regimens, including platinum-based chemotherapy, and the recently-introduced PARP (poly (ADP)-ribose polymerase) inhibitors. Given the recent advances in reproductive technology and molecular medicine, younger women with PGVs may have the option of embryo selection through preimplantation genetic testing and diagnosis, thus preventing the potential transmission of the implicated genes to the next generations. In this review, we cover the clinical implications of identifying a pathogenic germline mutation in BRCA1 and BRCA2 genes in breast cancer patients, and their relatives, across the continuum of care -from cancer prevention and early detection, through active treatment and up to survivorship issues.

show abstract

Section: Fertility and Reproductionmentioning

confidence: 99%

Section: Survivorship Issuesmentioning

confidence: 99%