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相关概念视频

Cancer02:18

Cancer

Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...

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相关实验视频

Updated: May 10, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 19, 2013

人类癌症基因组体质突变的模式

Christopher Greenman1, Philip Stephens, Raffaella Smith

  • 1Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

Nature
|March 9, 2007
PubMed
概括

研究人员对癌症基因组进行了测序,确定了蛋白激酶基因中的1000多个突变. 这项研究涉及大约120个驱动基因,扩大了已知的癌症基因谱.

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Comparative Lesions Analysis Through a Targeted Sequencing Approach
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Published on: July 11, 2019

相关实验视频

Last Updated: May 10, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 19, 2013

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Characterizing Mutational Load and Clonal Composition of Human Blood
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Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

科学领域:

  • 基因组学就是基因组学.
  • 癌症生物学 癌症生物学
  • 分子瘤学分子瘤学

背景情况:

  • 癌症的发展是由赋予细胞生长优势的遗传突变驱动的.
  • 人类基因组测序的出现有助于通过系统突变分析识别新型癌症基因.

研究的目的:

  • 系统地重新测序癌症基因组,以发现其他与癌症相关的基因.
  • 在各种人类癌症中分析蛋白激酶基因的体性突变.

主要方法:

  • 来自518个蛋白质激酶基因的编码外基因的全外基因组测序.
  • 从210个不同的人类癌症样本中分析了274个兆基 (Mb) 的DNA.
  • 识别和表征超过1000个体质突变.

主要成果:

  • 在210种人类癌症中,在蛋白质激酶基因中发现了1000多个体质突变.
  • 观察到突变模式的显著变化,与暴露,DNA修复和细胞起源有关.
  • 有证据表明,大约120个基因含有驱动突变,有助于瘤发生.

结论:

  • 系统性癌症基因组测序揭示了癌症的广泛进化多样性.
  • 癌症基因的数量比以前预期的要多,这与癌症的发展有关.
  • 识别驱动突变为癌症机制和潜在的治疗点提供了洞察力.