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人乳腺上皮细胞全基因组测序数据的生成与分析

Generation and analysis of whole-genome sequencing data in human mammary epithelial cells.

作者信息

Park Jong-Lyul, Kim Jae-Yoon, Kim Seon-Young, Lee Yong Sun

机构信息

Personalized Genomic Medicine Research Center, KRIBB, Daejeon 34141, Korea.

Department of Functional Genomics, University of Science and Technology, Daejeon 34113, Korea.

出版信息

Genomics Inform. 2023 Mar;21(1):e11. doi: 10.5808/gi.22044. Epub 2023 Mar 31.

Abstract

Breast cancer is the most common cancer worldwide, and advanced breast cancer with metastases is incurable mainly with currently available therapies. Therefore, it is essential to understand molecular characteristics during the progression of breast carcinogenesis. Here, we report a dataset of whole genomes from the human mammary epithelial cell system derived from a reduction mammoplasty specimen. This system comprises pre-stasis 184D cells, considered normal, and seven cell lines along cancer progression series that are immortalized or additionally acquired anchorage-independent growth. Our analysis of the whole-genome sequencing (WGS) data indicates that those seven cancer progression series cells have somatic mutations whose number ranges from 8,393 to 39,564 (with an average of 30,591) compared to 184D cells. These WGS data and our mutation analysis will provide helpful information to identify driver mutations and elucidate molecular mechanisms for breast carcinogenesis.

摘要

乳腺癌是全球最常见的癌症,而伴有转移的晚期乳腺癌主要采用目前可用的疗法无法治愈。因此,了解乳腺癌发生发展过程中的分子特征至关重要。在此,我们报告了一个来自缩乳术标本的人乳腺上皮细胞系统的全基因组数据集。该系统包括被认为是正常的停滞前期184D细胞,以及沿着癌症进展系列的七个细胞系,这些细胞系是永生化的或额外获得了不依赖贴壁生长的能力。我们对全基因组测序(WGS)数据的分析表明,与184D细胞相比,这七个癌症进展系列细胞的体细胞突变数量在8393至39564之间(平均为30591)。这些WGS数据和我们的突变分析将为识别驱动突变和阐明乳腺癌发生的分子机制提供有用信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a65/10085740/5104c266f7fc/gi-22044f1.jpg

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