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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Comparing Copy Number Variations and SNPs02:26

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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%...
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lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Cancers Originate from Somatic Mutations in a Single Cell02:21

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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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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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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Single nucleotide variants in lung cancer.

Xiaoling Tian1, Zhe Liu1

  • 1Zhejiang Key Laboratory of Medical Epigenetics, Department of Cell Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, China.

Chinese Medical Journal Pulmonary and Critical Care Medicine
|August 22, 2024
PubMed
Summary

Germline genetic variants like single-nucleotide variants (SNVs) contribute to lung cancer differences. These SNVs offer potential for risk assessment, prevention, and novel lung cancer therapies.

Keywords:
Germline mutationLung cancerOutcomePrecision medicineSingle nucleotide variantsSusceptibility

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Area of Science:

  • Genetics
  • Oncology
  • Genomics

Background:

  • Germline genetic variants, including single-nucleotide variants (SNVs) and copy number variants (CNVs), are key drivers of interpatient heterogeneity in lung cancer.
  • Genome-wide association studies (GWAS) have identified numerous lung cancer-associated SNVs in diverse populations, particularly Caucasian and Chinese cohorts.

Purpose of the Study:

  • To review identified lung cancer-associated SNVs.
  • To discuss their roles in lung tumorigenesis and patient prognosis.
  • To explore their potential in predicting outcomes and guiding therapeutic strategies.

Main Methods:

  • Literature review of genome-wide association studies (GWAS).
  • Analysis of identified single-nucleotide variants (SNVs) and copy number variants (CNVs).
  • Evaluation of variant impact on protein structure, function, and expression levels.

Main Results:

  • SNVs identified in coding regions can alter cancer-related protein structure and function.
  • SNVs in non-coding regions can modify the expression levels of cancer-related proteins.
  • These variants are implicated in lung tumorigenesis and patient prognosis.

Conclusions:

  • Germline genetic variants significantly contribute to lung cancer development and progression.
  • Identified SNVs hold promise for lung cancer risk assessment and prevention strategies.
  • These variants may serve as biomarkers for prognosis and targets for novel therapeutic interventions.