Navigating the body of literature assessing BRCA1/2 mutations and markers of ovarian function: a systematic review and meta-analysis

Mitchell, Christina N. Cordeiro; McGuinness, Bailey Gill; Fine, Eliana; Kearns, W.G.; Christianson, Mindy S.; Segars, James H.; Pastore, Lisa M.

doi:10.1007/s10815-020-01745-2

Cited by 3 publications

(4 citation statements)

References 37 publications

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“…age at sampling, chronic ovarian dysfunction such as PCOS, use of hormonal contraceptives and breast cancer affected or not) could interfere with the observed results. In a recent meta-analysis [ 40 ], nine papers reporting on AMH serum levels [ 10 , 17 , 18 , 20 – 23 , 23 , 25 ] were included and no overall significant association between BRCA mutation status and AMH was found.…”

Section: Discussionmentioning

confidence: 99%

“…Sample size, eligibility criteria and stimulation protocols all vary and only two studies adjusted for dosage of gonadotropin administered [ 43 , 44 ]. The previously mentioned meta-analysis included four papers and did not find any statistically significant difference in ovarian response [ 40 ].…”

Section: Discussionmentioning

confidence: 99%

“…In some preceding studies, differences in ovarian reserve were only detected in BRCA1 mutation carriers [ 9 , 10 , 16 , 18 , 19 , 26 , 44 ], while other studies reported differences in ovarian reserve that only existed in BRCA2 mutation carriers [ 20 , 38 ]. There is a biologic rationale, supported by discoveries in mice, for a distinct molecular function of BRCA1- and BRCA2 genes in DNA repair pathway [ 6 , 10 , 45 , 46 ], However, the hypothesized more critical role for BRCA1 genes in preventing oocyte depletion [ 47 ] could not be confirmed by previous datapooling [ 40 ] and similar to the ambigious results on the impact of BRCA genes on quantitative ovarian reserve, there is no consensus on potential existing differences in ovarian response within BRCA-mutation carriers.…”

Section: Discussionmentioning

confidence: 99%

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The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status

C.E

J.C.

et al. 2022

Reprod. Sci.

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This study aimed to investigate whether female BRCA1- and BRCA2 mutation carriers have a reduced ovarian reserve status, based on serum anti-Mullerian hormone (AMH) levels, antral follicle count (AFC) and ovarian response to ovarian hyperstimulation. A prospective, multinational cohort study was performed between October 2014 and December 2019. Normo-ovulatory women, aged 18–41 years old, applying for their first PGT-cycle for reason of a BRCA mutation (cases) or other genetic diseases unrelated to ovarian reserve (controls), were asked to participate. All participants underwent a ICSI-PGT cycle with a long-agonist protocol for controlled ovarian hyperstimulation. Linear and logistic regression models were used to compare AMH, AFC and ovarian response in cases and controls. Sensitivity analyses were conducted on BRCA1- and BRCA2 mutation carrier subgroups. Thirty-six BRCA mutation carriers (18 BRCA1- and 18 BRCA2 mutation carriers) and 126 controls, with mean female age 30.4 years, were included in the primary analysis. Unadjusted median AMH serum levels (IQR) were 2.40 (1.80–3.00) ng/ml in BRCA mutation carriers and 2.15 (1.30–3.40) ng/ml in controls (p = 0.45), median AFC (IQR) was 15.0 (10.8–20.3) and 14.5 (9.0–20.0), p = 0.54, respectively. Low response rate was 22.6% among BRCA mutation carriers and 9.3% among controls, p = 0.06. Median number of retrieved oocytes was 9 (6–14) in carriers and 10 (7–13) in controls, p = 0.36. No substantial differences were observed between BRCA1- and BRCA2 mutation carriers. Based on several biomarkers, no meaningful differences in ovarian reserve status were observed in female BRCA mutation carriers compared to controls in the context of ICSI-PGT treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status

C.E

J.C.

et al. 2022

Reprod. Sci.

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“…Available data on PGT-M age-related outcomes suggest similar pattern as above, with highest success rates at an oocyte age 30-35 years, a moderate decline from age 35 to 40 years, and extremely limited success rates after age 40 years. 21,28,29 Furthermore, although data are mixed on the association of BRCA carrier status diminished ovarian reserve, [30][31][32] the mere suggestion of reduced and reproductive potential underscores the importance of fertility counseling as early as possible in the reproductive years. For both fertility preservation and preimplantation testing, early intervention translates to higher live birth rates.…”

Section: Preimplantation Genetic Testing For Carriersmentioning

confidence: 99%