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散发性和遗传性结直肠癌的基因组学。

The genomics of sporadic and hereditary colorectal cancer.

机构信息

University of Cambridge, UK.

Cambridge University Hospitals NHS Foundation Trust, UK.

出版信息

Ann R Coll Surg Engl. 2024 Apr;106(4):313-320. doi: 10.1308/rcsann.2024.0024.

DOI:10.1308/rcsann.2024.0024
PMID:38555871
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10981993/
Abstract

Colorectal cancer (CRC) is a leading cause of cancer deaths worldwide. Over the past three decades, extensive efforts have sought to elucidate the genomic landscape of CRC. These studies reveal that CRC is highly heterogeneous at the molecular level, with different subtypes characterised by distinct somatic mutational profiles, epigenetic aberrations and transcriptomic signatures. This review summarises our current understanding of the genomic and epigenomic alterations implicated in CRC development and progression. Particular focus is given to how characterisation of CRC genomes is leading to more personalised approaches to diagnosis and treatment.

摘要

结直肠癌（CRC）是全球癌症死亡的主要原因。在过去的三十年中，人们进行了广泛的努力来阐明 CRC 的基因组图谱。这些研究表明，CRC 在分子水平上具有高度异质性，不同的亚型具有不同的体细胞突变谱、表观遗传异常和转录组特征。本文综述了我们目前对 CRC 发生和发展中涉及的基因组和表观基因组改变的理解。特别关注的是如何对 CRC 基因组进行特征描述，从而为诊断和治疗提供更具个性化的方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/cac5fdaaa8bd/rcsann.2024.0024.04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/9e2d8e592a0b/rcsann.2024.0024.01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/62f946ade12a/rcsann.2024.0024.02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/7156883d8936/rcsann.2024.0024.03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/cac5fdaaa8bd/rcsann.2024.0024.04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/9e2d8e592a0b/rcsann.2024.0024.01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/62f946ade12a/rcsann.2024.0024.02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/7156883d8936/rcsann.2024.0024.03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b5/10981993/cac5fdaaa8bd/rcsann.2024.0024.04.jpg

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BJC Rep. 2023 Aug 4;1(1):10. doi: 10.1038/s44276-023-00011-z.
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Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer.单细胞和批量转录组测序确定了两种上皮肿瘤细胞状态，并完善了结直肠癌的共识分子分类。
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Molecular Mechanisms and Clinical Aspects of Colitis-Associated Cancer in Ulcerative Colitis.溃疡性结肠炎相关结肠癌的分子机制与临床研究进展
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In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes.基于计算机的对遗传性结直肠癌综合征中意义不明变异体潜在影响的破译。
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PD-1 Blockade in Mismatch Repair-Deficient, Locally Advanced Rectal Cancer.
PD-1 阻断在错配修复缺陷、局部晚期直肠癌中的应用。
N Engl J Med. 2022 Jun 23;386(25):2363-2376. doi: 10.1056/NEJMoa2201445. Epub 2022 Jun 5.
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Differential pre-malignant programs and microenvironment chart distinct paths to malignancy in human colorectal polyps.不同的癌前病变程序和微环境描绘了人类结直肠息肉恶变的不同途径。
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