在癌症中的多基因分数
Xin Yang1, Siddhartha Kar2,3, Antonis C Antoniou1
1Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Nature reviews. Cancer
|July 21, 2023
概括
多基因分数 (PGSs) 结合了许多常见的遗传变异,以改善癌症风险预测. 研究表明,PGS可以在临床上对分层癌症风险有用,尽管目前存在挑战.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 生物统计学 生物统计学
背景情况:
- 自2007年以来,已发现数千个常见的癌症风险等位基因.
- 个别的遗传变异提供了很小,临床上没有意义的癌症风险.
- 多基因分数 (PGS) 汇总了多个变体的效应,以增加风险歧视.
研究的目的:
- 审查了15年关于癌症PGS发展的研究.
- 评估全基因组关联研究中的统计方法和应用.
- 评估癌症PGSs的预测性表现和临床实用性挑战.
主要方法:
- 审查用于PGS开发的统计方法.
- 在各种癌症的大规模全基因组关联研究中应用PGS.
- 对现有癌症PGSs的预测性能和局限性的分析.
主要成果:
- PGS显示了临床上有用的癌症风险分层的潜力.
- 在过去的15年里,大量的研究工作推动了PGS方法的发展.
- 对于癌症PGSs的广泛临床整合仍然存在挑战.
结论:
- PGS正在成为癌症风险预测的有价值工具.
- 集成到多因素模型正在开始临床试验和实施.
- 需要继续进行研究,以克服局限性并增强临床应用.
相关概念视频
Polygenic Traits
66.0K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
66.0K
Cancer-Critical Genes II: Tumor Suppressor Genes
7.5K
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...
7.5K
Cancer-Critical Genes I: Proto-oncogenes
9.0K
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...
9.0K
Cancer Survival Analysis
390
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
390
Cancers Originate from Somatic Mutations in a Single Cell
12.1K
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...
12.1K
Cancer Prevention
6.2K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.2K


