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Meta-Analysis
. 2021 Dec:60:155-162.
doi: 10.1016/j.breast.2021.09.006. Epub 2021 Sep 27.

Ovarian reserve of women with and without BRCA pathogenic variants: A systematic review and meta-analysis

Maria Luisa Gasparri  1 , Rosa Di Micco  2 , Veronica Zuber  3 , Katayoun Taghavi  4 , Giampaolo Bianchini  5 , Serena Bellaminutti  6 , Francesco Meani  6 , Rossella Graffeo  7 , Massimo Candiani  8 , Michael D Mueller  9 , Andrea Papadia  10 , Oreste D Gentilini  3
Affiliations
Meta-Analysis

Ovarian reserve of women with and without BRCA pathogenic variants: A systematic review and meta-analysis

Maria Luisa Gasparri et al. Breast. 2021 Dec.

Abstract

Introduction: Preliminary clinical evidence suggests a detrimental effect of pathogenic variants of BRCA1 and 2 genes on fertility outcome. This meta-analysis evaluates whether women carrying BRCA mutations (BRCAm) have decreased ovarian reserve, in terms of Anti-Muellerian Hormone (AMH), compared to women without BRCAm (wild-type).

Material and methods: Systematic searches of PubMed, Medline, Scopus, Embase, Science Direct and the Cochrane Library from inception until July 2020 were conducted. All studies comparing AMH level in fertile age women, with and without BRCA pathogenic variants were considered. Sub-analyses were performed according to age, presence of breast cancer, and type of mutation.

Results: Among 64 studies, 10 series were included. For the entire cohort, a trend of reduced AMH level were found between BRCAm carriers and women without pathogenic variants. BRCAm carriers aged 41-years or younger had lower AMH levels compared to 41-years or younger wild type women (OR: 0.73 [95%CI-1.12;-0.35]; p = 0.0002). This finding was confirmed for BRCA1m carriers (OR: 1 [95%CI-1.96;-0.05]; p = 0.004) whereas no difference was observed between BRCA2m carriers and wild type women. The same analysis on breast cancer patients with and without BRCAm achieved the same results.

Conclusion: Young BRCA1m carriers seem to have lower AMH level compared with wild type women and therefore a potential decreased ovarian reserve.

Keywords: AMH; BRCA pathogenic variants; BRCA1m; BRCA2m; Breast cancer; Ovarian reserve.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest The authors have nothing to declare. They have no conflict of interest.

Figures

Image 1
Graphical abstract
Fig. 1
Fig. 1
PRISMA flow diagram on the Meta-analysis process.
Fig. 2
Fig. 2
AMH in BRCAm 1/2 breast cancer and cancer-free women versus wild-type non cancer women.
Fig. 3
Fig. 3
AMH in BRCAm 1/2 breast cancer and cancer-free women versus wild-type non cancer women in under 42y
Fig. 4
Fig. 4
AMH in BRCA1m breast cancer and cancer-free women versus wild-type non cancer women.
Fig. 5
Fig. 5
AMH in BRCA1m breast cancer and cancer-free women versus wild-type non cancer women in under 42y
Fig. 6
Fig. 6
AMH in BRCA2m breast cancer and cancer-free women versus wild-type non cancer women.
Fig. 7
Fig. 7
AMH in BRCA2m breast cancer and cancer-free women versus wild-type non cancer women in under 42.
Fig. 8
Fig. 8
AMH in breast cancer patients undergoing fertility preservation in under 42y: BRCA1m versus wild-type.
Fig. 9
Fig. 9
AMH in breast cancer patients undergoing fertility preservation in under 42y: BRCA2m versus wild-type.
See this image and copyright information in PMC

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