2022 年第 3 期 第 17 卷

三磷酸腺苷黏合转运体B1基因在乳腺癌中表达及生物功能信息分析

Expression and biological function information of adenosine triphosphate binding cassette subfamily B member 1 gene in breast cancer

作者：邹家群伍燕陈懿罗东林田武国

英文作者：Zou Jiaqun Wu Yan Chen Yi Luo Donglin Tian Wuguo

单位：陆军军医大学大坪医院乳腺甲状腺外科，重庆400042

英文单位：Department of Breast and Thyroid Surgery Daping Hospital Army Medical University Chongqing 400042 China

关键词：乳腺癌；三磷酸腺苷黏合转运体B1；生物功能；生物信息

英文关键词：Breastcancer;AdenosinetriphosphatebindingcassettesubfamilyBmember1;Biologicalfunction;Biologicalinformation

• 摘要：

• 目的 探讨三磷酸腺苷黏合转运体B1（ABCB1）基因在乳腺癌中的表达，分析其生物功能信息。方法  检索癌症基因组分析数据库中ABCB1基因在乳腺癌肿瘤组织和正常乳腺组织中的表达情况，通过免疫模块探索乳腺癌ABCB1基因与免疫细胞浸润之间相关性，通过突变模块分析乳腺癌ABCB1基因突变与mRNA表达相关性。通过癌症细胞系敏感性数据库分析ABCB1基因表达与药物敏感性的关系。结果 ABCB1基因在乳腺癌肿瘤组织中存在表达情况,但低于正常乳腺组织［错误发现率（FDR）＜0.05］；其表达水平与乳腺癌不同分期和不同分子分型及患者无进展生存期和总生存期均有关。ABCB1 mRNA与滤泡辅助性T细胞浸润评分呈正相关（r=0.63，FDR＜0.05)，与单核细胞浸润评分呈负相关(r=-0.55，FDR＜0.05)。ABCB1基因在乳腺癌有效单核苷酸变异共10个，基因拷贝数变异与ABCB1基因表达存在负相关性（FDR＜0.05）。Rac GTPase抑制剂NCS23766是ABCB1基因相关的最敏感药物。结论  ABCB1基因在乳腺癌患者癌组织中低表达，并与患者预后不良有关,针对ABCB1基因免疫浸润和基因突变的研究有望成为乳腺癌治疗的新方向。

• Objective   To investigate the expression of adenosine triphosphate binding cassette subfamily B member 1 (ABCB1) gene in breast cancer and to analyze its biological function information. Methods   The expression of ABCB1 gene in breast cancer tissues and normal breast tissues was searched in the cancer genome analysis database. The correlation between ABCB1 gene and immune cell infiltration in breast cancer was explored through immune module. The relationship between ABCB1 gene mutation and mRNA expression was analyzed by mutation module. The relationship between ABCB1 gene expression and drug sensitivity was analyzed by cancer cell line sensitivity database. Results  The ABCB1 gene was expressed in breast cancer tissues and the expression was lower than that in normal tissues［false discovey rate (FDR) <0.05］. The ABCB1 gene expression level was related to different stages and molecular typing of breast cancer, progression-free survival and overall survival. The ABCB1 gene was positively correlated with follicular helper T cells infiltration score (r=0.63, FDR <0.05), and was negatively correlated with monocyte infiltration score (r=-0.55, FDR <0.05). ABCB1 gene had 10 effective single nucleotide variants in breast cancer, and there was a negative correlation between gene copy number variation and ABCB1 gene expression (FDR <0.05). Rac GTPase inhibitor NCS23766 was the most sensitive drug related to ABCB1 gene. Conclusions ABCB1 is lowly expressed in breast cancer tissues of patients and it is associated with poor prognosis. Targeting ABCB1 immune infiltration and gene mutation are expected to be new directions in the treatment of breast cancer.