Related Experiment Video

Updated: Sep 28, 2026

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage
10:59

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Published on: August 21, 2021

[Repair of DNA damage using nucleotide excision repair (NER)--relationship with cancer risk]

Dorota Butkiewicz1, Marek Rusin, Małgorzata Pawlas

  • 1Zakład Biologii Nowotworów, Centrum Onkologii-Instytut im. M. Skłodowskiej-Curie, Oddział w Gliwicach.

Postepy Higieny I Medycyny Doswiadczalnej
|November 7, 2002
PubMed

Insights

Genetic variations in DNA repair genes influence cancer risk. Defects in nucleotide excision repair (NER) genes cause rare disorders and may increase cancer susceptibility in the general population.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Biology

Context:

  • DNA damage repair is crucial for maintaining genome integrity.
  • Inherited defects in nucleotide excision repair (NER) genes are linked to rare genetic disorders.
  • NER gene variations are increasingly recognized for their role in cancer predisposition.

Purpose:

  • To review the current understanding of how genetic variations in NER genes contribute to cancer predisposition.
  • To highlight the link between DNA repair capacity and cancer risk.
  • To explore the implications of common NER gene polymorphisms for cancer susceptibility.

Summary:

  • DNA damage repair mechanisms are essential for genomic stability and play a key role in cancer development.
  • Rare inherited defects in nucleotide excision repair (NER) genes result in xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy, disorders associated with high cancer risk.
  • Common polymorphisms within NER genes may also impact an individual's susceptibility to cancer in the general population.

Impact:

  • This review provides insights into the genetic basis of cancer predisposition.
  • Understanding the role of NER gene variations can inform cancer risk assessment and prevention strategies.
  • Highlights the importance of DNA repair genetics in both rare diseases and common cancers.

More Related Videos

Visualizing Single-Stranded DNA Foci in the G1 Phase of the Cell Cycle08:30

Visualizing Single-Stranded DNA Foci in the G1 Phase of the Cell Cycle

Published on: December 22, 2023

Related Concept Videos

Nucleotide Excision Repair01:46

Nucleotide Excision Repair

Exposure to mutagens can damage DNA and result in bulky lesions that distort the double-helix structure or impede proper transcription. Damaged DNA can be detected and repaired in a process called nucleotide excision repair (NER). NER employs a set of specialized proteins that first scan DNA to detect a damaged region. Next, NER proteins separate the strands and excise the damaged area. Finally, they coordinate the replacement with new, matching nucleotides.DNA distortion and damageCells are...
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Nucleotide Excision Repair01:46

Nucleotide Excision Repair

Exposure to mutagens can damage DNA and result in bulky lesions that distort the double-helix structure or impede proper transcription. Damaged DNA can be detected and repaired in a process called nucleotide excision repair (NER). NER employs a set of specialized proteins that first scan DNA to detect a damaged region. Next, NER proteins separate the strands and excise the damaged area. Finally, they coordinate the replacement with new, matching nucleotides.DNA distortion and damageCells are...
Base Excision Repair01:54

Base Excision Repair

One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
The first step of...
Base Excision Repair01:54

Base Excision Repair

One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
The first step of...
Overview of DNA Repair02:25

Overview of DNA Repair

In order to be passed through generations, genomic DNA must be undamaged and error-free. However, every day, DNA in a cell undergoes several thousand to a million damaging events by natural causes and external factors. Ionizing radiation such as UV rays, free radicals produced during cellular respiration, and hydrolytic damage from metabolic reactions can alter the structure of DNA. Damages caused include single-base alteration, base dimerization, chain breaks, and cross-linkage.
Chemically...