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来自与患者预后相关的明确起源人群的 TP53 和 p53 注释高级别卵巢浆液性癌的基因组景观。

The genomic landscape of TP53 and p53 annotated high grade ovarian serous carcinomas from a defined founder population associated with patient outcome.

机构信息

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

出版信息

PLoS One. 2012;7(9):e45484. doi: 10.1371/journal.pone.0045484. Epub 2012 Sep 20.

Abstract

High-grade ovarian serous carcinomas (HGSC) are characterized by TP53 mutations and non-random patterns of chromosomal anomalies, where the nature of the TP53 mutation may correlate with clinical outcome. However, the frequency of common somatic genomic events occurring in HGSCs from demographically defined populations has not been explored. Whole genome SNP array, and TP53 mutation, gene and protein expression analyses were assessed in 87 confirmed HGSC samples with clinical correlates from French Canadians, a population exhibiting strong founder effects, and results were compared with independent reports describing similar analyses from unselected populations. TP53 mutations were identified in 91% of HGSCs. Anomalies observed in more than 50% of TP53 mutation-positive HGSCs involved gains of 3q, 8q and 20q, and losses of 4q, 5q, 6q, 8p, 13q, 16q, 17p, 17q, 22q and Xp. Nearly 400 regions of non-overlapping amplification or deletion were identified, where 178 amplifications and 98 deletions involved known genes. The subgroup expressing mutant p53 protein exhibited significantly prolonged overall and disease-free survival as compared with the p53 protein null subgroup. Interestingly, a comparative analysis of genomic landscapes revealed a significant enrichment of gains involving 1q, 8q, and 12p intervals in the subgroup expressing mutant p53 protein as compared with the p53 protein null subgroup. Although the findings show that the frequency of TP53 mutations and the genomic landscapes observed in French Canadian samples were similar to those reported for samples from unselected populations, there were differences in the magnitude of global gains/losses of specific chromosomal arms and in the spectrum of amplifications and deletions involving focal regions in individual samples. The findings from our comparative genomic analyses also support the notion that there may be biological differences between HGSCs that could be related to the nature of the TP53 mutation.

摘要

高级别卵巢浆液性癌(HGSC)的特征是 TP53 突变和非随机的染色体异常模式,其中 TP53 突变的性质可能与临床结果相关。然而,在来自人口统计学定义的人群的 HGSC 中,常见的体细胞基因组事件的频率尚未被探索。对 87 例来自法国人的确诊 HGSC 样本进行了全基因组 SNP 芯片、TP53 突变、基因和蛋白表达分析,这些法国人具有强烈的奠基者效应,并将结果与描述来自未选择人群的类似分析的独立报告进行了比较。在 91%的 HGSCs 中发现了 TP53 突变。在 TP53 突变阳性的 HGSCs 中,超过 50%观察到的异常涉及 3q、8q 和 20q 的增益,以及 4q、5q、6q、8p、13q、16q、17p、17q、22q 和 Xp 的缺失。确定了近 400 个非重叠扩增或缺失区域,其中 178 个扩增和 98 个缺失涉及已知基因。表达突变型 p53 蛋白的亚组与 p53 蛋白缺失亚组相比,总体和无病生存期显著延长。有趣的是,基因组景观的比较分析显示,与 p53 蛋白缺失亚组相比,表达突变型 p53 蛋白的亚组中 1q、8q 和 12p 区间的增益显著富集。尽管研究结果表明,法国加拿大样本中 TP53 突变的频率和观察到的基因组景观与未选择人群样本报告的相似,但在特定染色体臂的总体增益/损失的幅度以及涉及个体样本中局灶区域的扩增和缺失的频谱方面存在差异。我们的比较基因组分析结果还支持这样一种观点,即 HGSC 之间可能存在与 TP53 突变的性质有关的生物学差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5be1/3447752/48d4a1cccca9/pone.0045484.g001.jpg

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