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体细胞突变的基因组模式为癌症提供了新的预后、治疗和生物学见解。

Genomic patterns of somatic mutations provide new prognostic, therapeutic, and biological insights in cancer.

机构信息

The Department of Microbiology and Molecular Genetics, Institute for Medical Research Israel-Canada, The Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

The Department of Microbiology and Molecular Genetics, Institute for Medical Research Israel-Canada, The Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

出版信息

Cell Genom. 2024 Aug 14;4(8):100635. doi: 10.1016/j.xgen.2024.100635.

DOI:10.1016/j.xgen.2024.100635
PMID:39146802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11406164/
Abstract

The mutational landscape of an individual's cancer can inform on its molecular state and be used as prognostic and therapeutic markers. The study by Barbour et al. analyzes mutational patterns in bladder cancer samples to uncover new biological insights into the ERCC2 gene function and develop new predictive prognostic tools.

摘要

个体癌症的突变情况可以反映其分子状态，并可作为预后和治疗标志物。Barbour 等人的研究分析了膀胱癌样本中的突变模式，以揭示 ERCC2 基因功能的新生物学见解，并开发新的预测预后工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5256/11406164/61b097004bfe/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5256/11406164/61b097004bfe/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5256/11406164/61b097004bfe/gr1.jpg

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1
Genomic patterns of somatic mutations provide new prognostic, therapeutic, and biological insights in cancer.体细胞突变的基因组模式为癌症提供了新的预后、治疗和生物学见解。
Cell Genom. 2024 Aug 14;4(8):100635. doi: 10.1016/j.xgen.2024.100635.
2
ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.ERCC2 突变改变了体细胞突变的基因组分布模式，并且在膀胱癌中具有独立的预后价值。
Cell Genom. 2024 Aug 14;4(8):100627. doi: 10.1016/j.xgen.2024.100627. Epub 2024 Aug 2.
3
Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.体细胞 ERCC2 突变与尿路上皮肿瘤中一种独特的基因组特征相关。
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本文引用的文献

1
ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.ERCC2 突变改变了体细胞突变的基因组分布模式，并且在膀胱癌中具有独立的预后价值。
Cell Genom. 2024 Aug 14;4(8):100627. doi: 10.1016/j.xgen.2024.100627. Epub 2024 Aug 2.
2
TFIIH central activity in nucleotide excision repair to prevent disease.TFIIH 在核苷酸切除修复中的核心作用可预防疾病。
DNA Repair (Amst). 2023 Dec;132:103568. doi: 10.1016/j.dnarep.2023.103568. Epub 2023 Sep 7.
3
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.
HRDetect是一种基于突变特征的BRCA1和BRCA2缺陷预测指标。
Nat Med. 2017 Apr;23(4):517-525. doi: 10.1038/nm.4292. Epub 2017 Mar 13.
4
Clinical Validation of Chemotherapy Response Biomarker ERCC2 in Muscle-Invasive Urothelial Bladder Carcinoma.化疗反应生物标志物ERCC2在肌层浸润性尿路上皮膀胱癌中的临床验证
JAMA Oncol. 2016 Aug 1;2(8):1094-6. doi: 10.1001/jamaoncol.2016.1056.
5
Nucleotide excision repair in humans.人类的核苷酸切除修复
DNA Repair (Amst). 2015 Dec;36:13-18. doi: 10.1016/j.dnarep.2015.09.003. Epub 2015 Sep 10.
6
Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma.体细胞 ERCC2 突变与肌层浸润性尿路上皮癌对顺铂的敏感性相关。
Cancer Discov. 2014 Oct;4(10):1140-53. doi: 10.1158/2159-8290.CD-14-0623. Epub 2014 Aug 5.
7
Signatures of mutational processes in human cancer.人类癌症中的突变过程特征。
Nature. 2013 Aug 22;500(7463):415-21. doi: 10.1038/nature12477. Epub 2013 Aug 14.
8
An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers.APOBEC 胞嘧啶脱氨酶致突变模式广泛存在于人类癌症中。
Nat Genet. 2013 Sep;45(9):970-6. doi: 10.1038/ng.2702. Epub 2013 Jul 14.
9
Mutational processes molding the genomes of 21 breast cancers.21 例乳腺癌基因组的突变过程。
Cell. 2012 May 25;149(5):979-93. doi: 10.1016/j.cell.2012.04.024. Epub 2012 May 17.