卵巢癌中的基因组不稳定性:通过单核酸多形态的镜头
Harshavardhani Canchi Sistla1, Srikanth Talluri2, Taruna Rajagopal3
1Cancer Genomics Laboratory, Department of Biotechnology, School of Chemical and Biotechnology, SASTRA- Deemed University, Thanjavur 613 401, India.
Clinica chimica acta; international journal of clinical chemistry
|October 12, 2024
概括
单核酸多态 (SNP) 是卵巢癌 (OC) 倾向的关键遗传因素. 本综述强调了SNP在基因组完整性基因中的患病率及其对个性化医学的临床影响.
科学领域:
- 基因组学就是基因组学.
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 卵巢癌 (OC) 是妇科癌症死亡率的主要原因,预后不佳.
- 基因组不稳定性,包括单核酸多态性 (SNP),有助于OC倾向.
- 了解OC的遗传基础对于推进分子诊断和个性化治疗至关重要.
研究的目的:
- 审查SNP在卵巢癌中对基因组完整性至关重要的基因的患病率和临床影响.
- 探索SNP在DNA损伤反应,修复,细胞周期检查点,端粒维护和OC中亡中的作用.
- 在基于SNP的OC研究中识别挑战和计算方法.
主要方法:
- 文献综述侧重于与OC相关的护理基因中SNP患病率.
- 分析用于预测SNP功能影响的计算方法和生物信息工具.
- 综合目前关于SNP在OC的临床影响的研究.
主要成果:
- 在OC中,DNA损伤反应 (DDR) 和同源重组修复 (HRR) 途径的变异是最广泛研究的.
- 型癌症的患病率很高,对偶发性癌症的风险有很大影响.
- 在其他途径中对SNP的研究,如非同类末端连接 (NHEJ),不匹配修复 (MMR),细胞周期,细胞亡,端粒维护和PARP基因等是不那么被探索的.
结论:
- 在卵巢癌的病因和倾向方面,SNP起着关键作用.
- 对较少探索的途径的进一步研究可能会揭示OC的新疗法标和诊断标记.
- 利用SNP数据可以增强卵巢癌患者的个性化医疗方法.
关键词:
异位遗传基因 (apoptotic genes) 是一种遗传基因.案例控制研究研究.细胞周期基因 细胞周期基因对DNA损伤的反应反应修复DNA的基因是修复DNA的基因.遗传变体的遗传变体基因组不稳定性 基因组不稳定性卵巢癌是发生在卵巢中的癌症.单个核酸的多态性.端粒酶维护基因的基因在 silico 工具中.更多相关视频
相关概念视频
Cancers Originate from Somatic Mutations in a Single Cell
11.8K
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...
11.8K
Single Nucleotide Polymorphisms-SNPs
14.7K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.7K
Comparing Copy Number Variations and SNPs
17.5K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.5K
Loss of Tumor Suppressor Gene Functions
4.7K
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...
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...
4.7K
Mismatch Repair
4.8K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.8K
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


