Centre Léon Bérard, Department of Surgical Oncology, 28 rue Laënnec, 69008, Lyon, France.
Centre Léon Bérard, Département Prévention et Santé Publique, 28, Rue Laënnec, Lyon, 69008, France; CNRS UMR 5558, Laboratoire de Biométrie et Biologie évolutive, 16, rue Raphael Dubois, Villeurbanne Cedex, 69622, France.
Breast. 2021 Oct;59:239-247. doi: 10.1016/j.breast.2021.07.010. Epub 2021 Jul 12.
Some studies suggested a decreased ovarian reserve among BRCA1/2 pathogenic variant carriers, with conflicting results.
We conducted a retrospective single-center observational study of ovarian reserve and spontaneous fertility comparing BRCA1/2 pathogenic variant carriers to controls (women who attended consultations to discuss fertility preservation before gonadotoxic treatment). Measures of associations between plasma AMH concentration, AFC and BRCA1/2 status were modelled by nonlinear generalized additive regression models and logistic regressions adjusted for age at plasma storage, oral contraceptive use, body mass index, cigarette smoking, and the AMH assay technique.
The whole population comprised 119 BRCA1/2 pathogenic variant carriers and 92 controls. A total of 110 women (42 carriers, among whom 30 were cancer-free, and 68 controls) underwent an ovarian reserve evaluation. Spontaneous fertility analysis included all women who previously attempted to become pregnant (134 women). We observed a tendency towards a premature decrease in ovarian reserve in BRCA1/2 pathogenic variant carriers, but no difference in mean AMH or AFC levels was found between BRCA1/2 pathogenic variant carriers and controls. An analysis of the extreme levels of AMH (≤5 pmol/l) and AFC (≤7 follicles) by logistic regression suggested a higher risk of low ovarian reserve among BRCA1/2 pathogenic variant carriers (adjusted odds ratio (OR) = 3.57, 95% CI = 1.00-12.8, p = 0.05; and adjusted OR = 4.99, 95% CI = 1.10-22.62, p = 0.04, respectively).
Attention should be paid to BRCA1/2 pathogenic variant carriers' ovarian reserve, considering this potential risk of premature alteration.
一些研究表明，BRCA1/2 种系变异携带者的卵巢储备减少，但结果存在冲突。
我们进行了一项回顾性单中心观察性研究，比较了 BRCA1/2 种系变异携带者和对照组（在接受性腺毒性治疗前咨询讨论生育力保存的女性）的卵巢储备和自然生育力。使用非线性广义加性回归模型和调整了血浆储存时年龄、口服避孕药使用、体重指数、吸烟状况和 AMH 检测技术的 logistic 回归来建模 AMH 浓度、AFC 和 BRCA1/2 状态之间的关联。
整个人群包括 119 名 BRCA1/2 种系变异携带者和 92 名对照组。共有 110 名女性（42 名携带者，其中 30 名无癌症）和 68 名对照组进行了卵巢储备评估。自然生育力分析包括所有曾试图怀孕的女性（134 名）。我们观察到 BRCA1/2 种系变异携带者卵巢储备过早下降的趋势，但 BRCA1/2 种系变异携带者和对照组之间的 AMH 或 AFC 平均值没有差异。通过 logistic 回归分析 AMH（≤5 pmol/l）和 AFC（≤7 个卵泡）的极端水平表明，BRCA1/2 种系变异携带者的卵巢储备低风险较高（调整后的优势比（OR）=3.57，95%置信区间（CI）=1.00-12.8，p=0.05；调整后的 OR=4.99，95%CI=1.10-22.62，p=0.04）。
鉴于这种潜在的早期改变风险，应关注 BRCA1/2 种系变异携带者的卵巢储备。
