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福尔马林固定石蜡包埋(FFPE)遗传性乳腺肿瘤的微小RNA表达谱分析

miRNA expression profiling of formalin-fixed paraffin-embedded (FFPE) hereditary breast tumors.

作者信息

Tanić Miljana, Yanowski Kira, Andrés Eduardo, Gómez-López Gonzalo, Socorro María Rodríguez-Pinilla, Pisano David G, Martinez-Delgado Beatriz, Benítez Javier

机构信息

Human Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

出版信息

Genom Data. 2014 Nov 22;3:75-9. doi: 10.1016/j.gdata.2014.11.008. eCollection 2015 Mar.

Abstract

Hereditary breast cancer constitutes only 5-10% of all breast cancer cases and is characterized by strong family history of breast and/or other associated cancer types. Only ~ 25% of hereditary breast cancer cases carry a mutation in BRCA1 or BRCA2 gene, while mutations in other rare high and moderate-risk genes and common low penetrance variants may account for additional 20% of the cases. Thus the majority of cases are still unaccounted for and designated as BRCAX tumors. MicroRNAs are small non-coding RNAs that play important roles as regulators of gene expression and are deregulated in cancer. To characterize hereditary breast tumors based on their miRNA expression profiles we performed global microarray miRNA expression profiling on a retrospective cohort of 80 FFPE breast tissues, including 66 hereditary breast tumors (13 BRCA1, 10 BRCA2 and 43 BRCAX), 10 sporadic breast carcinomas and 4 normal breast tissues, using Exiqon miRCURY LNA™ microRNA Array v.11.0. Here we describe in detail the miRNA microarray expression data and tumor samples used for the study of BRCAX tumor heterogeneity (Tanic et al., 2013) and biomarkers associated with positive BRCA1/2 mutation status (Tanic et al., 2014). Additionally, we provide the R code for data preprocessing and quality control.

摘要

遗传性乳腺癌仅占所有乳腺癌病例的5%-10%,其特征是有强烈的乳腺癌和/或其他相关癌症类型的家族病史。只有约25%的遗传性乳腺癌病例携带BRCA1或BRCA2基因突变,而其他罕见的高风险和中等风险基因以及常见的低 penetrance 变异的突变可能占另外20%的病例。因此,大多数病例仍无法解释,被指定为BRCAX肿瘤。微小RNA是小的非编码RNA,作为基因表达的调节因子发挥重要作用,并且在癌症中失调。为了根据微小RNA表达谱对遗传性乳腺肿瘤进行表征,我们使用Exiqon miRCURY LNA™微小RNA阵列v.11.0,对80个福尔马林固定石蜡包埋乳腺组织的回顾性队列进行了全局微阵列微小RNA表达谱分析,包括66个遗传性乳腺肿瘤(13个BRCA1、10个BRCA2和43个BRCAX)、10个散发性乳腺癌和4个正常乳腺组织。在这里,我们详细描述了用于研究BRCAX肿瘤异质性(Tanic等人,2013年)和与BRCA1/2突变阳性状态相关的生物标志物(Tanic等人,2014年)的微小RNA微阵列表达数据和肿瘤样本。此外,我们提供了用于数据预处理和质量控制的R代码。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4276/4535901/bbab8b9969d9/gr1.jpg

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