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乳腺癌中大多数经常发生突变的基因有一半在绝经前和绝经后乳腺癌患者之间的表达存在差异。

Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients.

机构信息

Department of Molecular Biology and Genetics, Tokat Gaziosmanpasa University, Tokat, Türkiye.

Department of Molecular Biology and Genetics, Tokat Gaziosmanpasa University, Tokat, Türkiye.

出版信息

Cancer Genet. 2024 Aug;286-287:11-17. doi: 10.1016/j.cancergen.2024.06.001. Epub 2024 Jun 13.

Abstract

Breast cancer has distinct causes and molecular characteristics at premenopausal and postmenopausal ages. The age-standardized incidence rate for postmenopausal breast cancer is more than 10 times higher than in premenopausal breast cancer. Here, we showed that the expression of 10 out of 20 most frequently mutated genes in breast cancer (namely, PIK3CA, CDH1, MUC16, PTEN, FAT3, FAT1, SPEN, ARID1A, LRP1B and RUNX1) is higher in premenopausal women with breast cancer than in postmenopausal women with breast cancer. The most significant differences in the expression in terms of menopause status were observed for RUNX1 and FAT1. Furthermore, we found that the majority of these 10 genes also show ER (estrogen receptor) or PR (progesterone receptor) status-dependent expression in both premenopausal and postmenopausal breast cancer patients. Unlike what we observed in the case of ER or PR status, the expression of most of these genes does not change depending on HER2 (human epidermal growth factor receptor 2) status in both premenopausal and postmenopausal breast cancer patients. Combined, our analysis suggests that menopause status might influence the expression of most frequently mutated genes in breast cancer, and that the most of these genes whose expression differ between pre- and post-menopausal women with breast cancer also show ER or PR status-dependent expression in women with breast cancer.

摘要

绝经前和绝经后乳腺癌有不同的病因和分子特征。绝经后乳腺癌的标准化发病率比绝经前乳腺癌高 10 多倍。在这里,我们发现乳腺癌中 20 个最常突变基因中的 10 个(即 PIK3CA、CDH1、MUC16、PTEN、FAT3、FAT1、SPEN、ARID1A、LRP1B 和 RUNX1)在绝经前乳腺癌患者中的表达高于绝经后乳腺癌患者。在绝经状态方面,RUNX1 和 FAT1 的表达差异最为显著。此外,我们发现这些 10 个基因中的大多数在绝经前和绝经后乳腺癌患者中也表现出 ER(雌激素受体)或 PR(孕激素受体)状态依赖性表达。与我们观察到的 ER 或 PR 状态不同,在绝经前和绝经后乳腺癌患者中,大多数这些基因的表达并不取决于 HER2(人表皮生长因子受体 2)状态。综合分析表明,绝经状态可能影响乳腺癌中最常突变基因的表达,并且这些在绝经前和绝经后乳腺癌女性之间表达存在差异的基因大多数也在乳腺癌女性中表现出 ER 或 PR 状态依赖性表达。

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