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相关概念视频

Mutations01:39

Mutations

83.8K
Overview
83.8K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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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...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

38
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
38
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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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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Mutations in Microorganisms01:18

Mutations in Microorganisms

36
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
36
Mutagenicity and Carcinogenicity01:25

Mutagenicity and Carcinogenicity

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Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
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相关实验视频

Updated: Jul 27, 2025

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations
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Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

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在基因变异中发生的遗传变化.

Wei-Zhao Peng1, Xin Liu1, Chao-Feng Li1

  • 1Department of General Surgery, China-Japan Friendship Hospital, Beijing, China.

Frontiers in oncology
|June 5, 2023
PubMed
概括
此摘要是机器生成的。

在LEP基因 (rs7799039-G等位基因) 和ADIPOQ基因 (rs1501299-T等位基因) 的遗传变异与乳腺癌风险有关. 这一元分析确定了影响癌症倾向的关键遗传因素.

关键词:
协会 协会 协会 协会 协会乳腺癌 乳腺癌 乳腺癌遗传变异 遗传交替 遗传变异这是一个元分析.危险的风险 危险的风险

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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相关实验视频

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Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations
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Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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科学领域:

  • 遗传学 是一个遗传学.
  • 在瘤学瘤学.
  • 分子生物学分子生物学

背景情况:

  • 乳腺癌表现出显著的遗传倾向,但其完整的遗传结构仍然不完全理解.
  • 识别与乳腺癌风险相关的特定遗传变异对于了解疾病病因至关重要.

研究的目的:

  • 进行一项元分析,评估LEP和ADIPOQ基因的遗传变异及其相应的受体基因与乳腺癌风险之间的关联.
  • 确定可能使个体易患乳腺癌的特定遗传位置.

主要方法:

  • 在PubMed,SCOPUS,CINAHIL和Embase数据库中进行了全面的文献搜索,截至2022年10月.
  • 资格评估和数据提取由两个研究人员独立进行,使用STATA软件进行统计分析.
  • 仅包括英语出版的人类研究.

主要成果:

  • LEP基因rs7799039-G等位基因 (OR:0.78,95%CI:0.620.98) 和ADIPOQ基因rs1501299-T等位基因 (OR:1.41,95%CI:1.061.88) 与乳腺癌风险显著相关.
  • 亚组分析表明,更年期状态,肥胖,种族和研究设计等因素可能会影响观察到的关联.
  • 没有发现LEP基因rs7799039或LEPR基因rs1137101基因型与循环勒素水平之间有显著的关联.

结论:

  • LEP基因rs7799039和ADIPOQ基因rs1501299代表了乳腺癌倾向的有希望的候选基因.
  • 对这些遗传标记物的进一步研究可能会提高我们对乳腺癌病因和风险评估的理解.