考虑到生殖系 BRCA1/2 基因突变状态,乳腺癌组织中同源重组修复 (HRR) 基因表达的变化。

IF 3 3区 医学 Q2 ONCOLOGY Breast Cancer Research and Treatment Pub Date : 2024-12-01 Epub Date: 2024-07-30 DOI:10.1007/s10549-024-07441-4
Laczmanska Izabela, Matkowski Rafal, Supplitt Stanislaw, Karpinski Pawel, Abrahamowska Mariola, Laczmanski Lukasz, Maciejczyk Adam, Czykalko Ewelina, Iwaneczko Ewelina, Kasprzak Piotr, Szynglarewicz Bartłomiej, Sasiadek Maria
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引用次数: 0

摘要

简介同源重组(HR)是一种重要的 DNA 修复机制,它的破坏会导致突变的积累,从而引发和促进癌症的形成。关键的 HR 基因 BRCA1 和 BRCA2 尤为重要,因为它们的种系致病变异与乳腺癌和/或卵巢癌的遗传易感性有关:该研究对 45 个 FFPE 乳腺癌组织进行了分析,这些组织分别来自 24 名和 21 名有和没有 BRCA1/2 基因突变的患者。共检测了 11 个基因的表达:使用定制 RT2 PCR 阵列(Qiagen)评估了 BRCA1、BRCA2、ATM、BARD1、FANCA、FANCB、FANCI、RAD50、RAD51D、BRIP1 和 CHEK2 等 11 个基因的表达情况,并使用 R 对结果进行了分析:结果:与BRCA1或BRCA2野生型癌症组织相比,BRCA1或BRCA2种系突变患者的癌症组织在所选HR基因的表达上没有明显差异。在 BRCA1 基因突变的癌症组织中,BRCA1 的表达明显高于 BRCA2 基因突变和 BRCA 野生型癌症组织:结论:在携带 BRCA1 或 BRCA2 基因突变的癌症组织中,除 BRCA1 外,未观察到任何受测 HR 基因的 mRNA 表达水平存在显著差异。然而,在BRCA1突变种系、BRCA2突变种系和BRCA1/2wt组织之间观察到的BRCA1表达量的显著差异可能表明在mRNA水平上存在一种补偿机制,以减轻细胞中BRCA1功能的丧失。
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Alterations in the expression of homologous recombination repair (HRR) genes in breast cancer tissues considering germline BRCA1/2 mutation status.

Introduction: Homologous recombination (HR) is a crucial DNA-repair mechanism, and its disruption can lead to the accumulation of mutations that initiate and promote cancer formation. The key HR genes, BRCA1 and BRCA2, are particularly significant as their germline pathogenic variants are associated with a hereditary predisposition to breast and/or ovarian cancer.

Materials and methods: The study was performed on 45 FFPE breast cancer tissues obtained from 24 and 21 patients, with and without the germline BRCA1/2 mutation, respectively. The expression of 11 genes: BRCA1, BRCA2, ATM, BARD1, FANCA, FANCB, FANCI, RAD50, RAD51D, BRIP1, and CHEK2 was assessed using Custom RT2 PCR Array (Qiagen), and results were analysed using R.

Results: Cancer tissues from patients with BRCA1 or BRCA2 germline mutations displayed no significant differences in the expression of the selected HR genes compared to BRCA1 or BRCA2 wild-type cancer tissues. In BRCA1mut cancer tissues, BRCA1 expression was significantly higher than in BRCA2mut and BRCA wild-type cancer tissues.

Conclusions: In cancer tissues harbouring either BRCA1 or BRCA2 germline mutations, no significant differences in expression were observed at the mRNA level of any tested HR genes, except BRCA1. However, the significant differences observed in BRCA1 expression between germline BRCA1mut, germline BRCA2mut and BRCA1/2wt tissues may indicate a compensatory mechanism at the mRNA level to mitigate the loss of BRCA1 function in the cells.

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来源期刊
CiteScore
6.80
自引率
2.60%
发文量
342
审稿时长
1 months
期刊介绍: Breast Cancer Research and Treatment provides the surgeon, radiotherapist, medical oncologist, endocrinologist, epidemiologist, immunologist or cell biologist investigating problems in breast cancer a single forum for communication. The journal creates a "market place" for breast cancer topics which cuts across all the usual lines of disciplines, providing a site for presenting pertinent investigations, and for discussing critical questions relevant to the entire field. It seeks to develop a new focus and new perspectives for all those concerned with breast cancer.
期刊最新文献
Correction: FBLN2 is associated with basal cell markers Krt14 and ITGB1 in mouse mammary epithelial cells and has a preferential expression in molecular subtypes of human breast cancer. A randomised trial comparing 6-monthly adjuvant zoledronate with a single one-time dose in patients with early breast cancer. Alterations in the expression of homologous recombination repair (HRR) genes in breast cancer tissues considering germline BRCA1/2 mutation status. Efficacy of antiobesity medications among breast cancer survivors taking aromatase inhibitors. Cost containment analysis of superparamagnetic iron oxide (SPIO) injection in patients with ductal carcinoma in situ.
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