Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, McGill University, 888 Boulevard de Maisonneuve East, suite # 200, Montreal, QC, H2l 4S8, Canada.
Obstetrics and Gynecology Department, King Abdulaziz University Hospital, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
J Assist Reprod Genet. 2022 May;39(5):1163-1168. doi: 10.1007/s10815-022-02486-0. Epub 2022 Apr 11.
To determine the frequency of hereditary breast cancer associated with different mutated genes and to evaluate fertility preservation (FP) outcomes among young women with hereditary breast cancer when compared to non-hereditary breast cancer.
A retrospective cohort study of women with breast cancer who underwent fertility preservation treatment at our academic fertility center between 2005 and 2019. We included all women with breast cancer aged < 40 years who had a genetic testing and underwent fertility preservation before starting gonadotoxic therapy (n = 132). Our objective was to evaluate the total number of oocytes retrieved, mature oocytes MII, embryos (where appropriate), cryopreserved oocytes, and/or embryos.
Of 132 women with breast cancer, 40 women were found to be genetically positive (31.4%), 31 women of 40 (77.5%) had a BRCA mutation, 3 (7.5%) had ATM, 2 (5%) had CHK2, and one (2.5%) for each of the following genes: PALP2, NF, MUTYH.c.536A, and TP53. There was no significant difference between the groups in the total number of eggs retrieved and the number of MII oocytes and cryopreserved oocytes. The numbers of fertilized oocytes and cryopreserved embryos in the hereditary (n = 40) and non-hereditary (n = 92) group were (5.15 ± 6.6 vs 2.90 ± 4.2, P = 0.054) and (3.35 ± 3.7 vs 1.9 ± 2.8, P = 0.046) respectively.
More than three quarters of positive mutated genes in women with breast cancer are BRCA mutations. Compared to those with non-hereditary breast cancer, women with hereditary breast cancer attained higher number of cryopreserved embryos.
确定不同突变基因与遗传性乳腺癌的关联频率，并评估与非遗传性乳腺癌相比，遗传性乳腺癌年轻女性进行生育力保存（FP）的结果。
对 2005 年至 2019 年期间在我们学术生育中心接受生育力保存治疗的乳腺癌女性进行回顾性队列研究。我们纳入了所有年龄<40 岁、有基因检测且在接受性腺毒性治疗前进行生育力保存的乳腺癌女性（n=132）。我们的目的是评估总取卵数、成熟卵母细胞 MII、胚胎（如有）、冷冻卵母细胞和/或胚胎。
在 132 例乳腺癌女性中，有 40 例（31.4%）基因检测阳性，其中 31 例（77.5%）有 BRCA 突变，3 例（7.5%）有 ATM 突变，2 例（5%）有 CHK2 突变，1 例（2.5%）分别有 PALP2、NF、MUTYH.c.536A 和 TP53 突变。在总取卵数、MII 卵母细胞和冷冻卵母细胞数量方面，两组间无显著差异。遗传性（n=40）和非遗传性（n=92）组的受精卵数和冷冻胚胎数分别为（5.15±6.6 比 2.90±4.2，P=0.054）和（3.35±3.7 比 1.9±2.8，P=0.046）。
乳腺癌女性中超过四分之三的阳性突变基因是 BRCA 突变。与非遗传性乳腺癌相比，遗传性乳腺癌女性获得了更多的冷冻胚胎。
