CIBRA确定了对瘤生物学产生全系统影响的基因组变化
Soufyan Lakbir1,2,3, Caterina Buranelli1,2, Gerrit A Meijer2
1Bioinformatics Section, Department of Computer Science, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Bioinformatics (Oxford, England)
|September 4, 2024
概括
通过整合基因组学和转录组学数据,CIBRA识别了癌症中具有影响力的基因组变化. 这种方法揭示了结构变异在癌症发展中的重要,未被报告的作用,有助于发现生物标志物.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
背景情况:
- 基因组不稳定驱使癌症通过体质改变.
- 识别这些变化的全系统影响对于生物标志物的优先排序至关重要.
研究的目的:
- 开发和评估CIBRA (生物相关变化的计算识别).
- 确定基因组改变对瘤生物学的全系统影响.
- 为了确定新的癌症驱动因素和生物标志物.
主要方法:
- 综合基因组学和转录基因组学数据.
- 使用CIBRA进行全系统影响分析.
- 用TCGA和哈特维格医学基金会的数据对33种癌症类型进行了评估.
主要成果:
- CIBRA证实了已知瘤基因和瘤抑制剂 (0.79AUC) 中点突变的影响.
- 从结构变异中确定了系统范围内的重大影响 (30.3%),这表明报告不足.
- 证明有效率只有10个病例和对照.
结论:
- 通过结合基因组学和转录组学,CIBRA有效地识别癌症驱动因素.
- 结构变异对癌症生物学有着显著的,以前被低估的影响.
- CIBRA可以完善基因组改变定义,以改善诊断和预后生物标志物.
相关概念视频
Cancer-Critical Genes I: Proto-oncogenes
8.7K
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...
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...
8.7K
Cancer-Critical Genes II: Tumor Suppressor Genes
7.3K
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...
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...
7.3K
Targeted Cancer Therapies
7.5K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
7.5K
The Retinoblastoma Gene
4.1K
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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
Combination Therapies and Personalized Medicine
4.9K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
4.9K


