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Related Concept Videos

Nucleotide Excision Repair01:38

Nucleotide Excision Repair

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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...
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Cancer Prevention02:59

Cancer Prevention

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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.
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Base Excision Repair01:54

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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...
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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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Long-patch Base Excision Repair01:02

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Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
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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.
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Related Experiment Video

Updated: Aug 22, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response

Sami Belhadj1,2,3, Aliya Khurram1, Chaitanya Bandlamudi4

  • 1Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center (MSKCC), New York, New York.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|November 8, 2022
PubMed
Summary
This summary is machine-generated.

NBN gene variants increase cancer risk across multiple tumor types. Functional studies show these variants impair DNA repair, supporting NBN

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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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Area of Science:

  • Genetics
  • Cancer Biology
  • Genomic Medicine

Background:

  • The NBN gene plays a crucial role in DNA double-strand break repair.
  • Germline mutations in DNA repair genes are associated with hereditary cancer syndromes.
  • Understanding NBN's role in cancer susceptibility is essential for risk assessment and targeted therapies.

Purpose of the Study:

  • To investigate the role of the NBN gene as a pan-cancer susceptibility gene.
  • To identify and characterize presumed pathogenic germline variants (PGVs) in NBN across diverse cancer types.
  • To evaluate the functional consequences of NBN PGVs in cellular models.

Main Methods:

  • Sequencing of germline and somatic DNA from over 34,000 cancer patients.
  • Identification and analysis of presumed pathogenic germline variants (PGVs) in NBN.
  • Case-control association studies and functional assays using cellular models.
  • Analysis of protein expression, MRN complex formation, and response to gamma irradiation.

Main Results:

  • Identified 83 carriers of 32 NBN PGVs (0.25% of patients), including the Slavic founder variant p.K219fs.
  • NBN PGV carriers showed increased loss of the wild-type allele in tumors (OR=2.7, P=0.0024).
  • Functional studies revealed novel NBN variants producing fragments that maintain MRE11 binding, leading to increased sensitivity to gamma irradiation.

Conclusions:

  • Evidence supports NBN's role in a broad spectrum of cancers.
  • Biallelic inactivation and functional data highlight NBN's contribution to cancer development.
  • Further research in large pan-cancer cohorts is needed to fully define NBN's associations and interactions.