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Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

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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.
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Nucleotide Excision Repair01:38

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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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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.
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Overview of DNA Repair02:25

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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.
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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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Genome Copying Errors02:46

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Next-generation sequencing (NGS) can identify mismatch repair (MMR) gene mutations in solid tumors, indicating potential for MMR protein loss. This supports using NGS to guide immunohistochemistry (IHC) testing for dMMR patients.

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Area of Science:

  • Oncology
  • Genomics
  • Cancer Biomarkers

Background:

  • Mismatch repair deficient (dMMR) solid tumors respond to PD-1 inhibition.
  • Immunohistochemistry (IHC) for dMMR is not universally applied.
  • Next-generation sequencing (NGS) for genomic alterations is common.

Purpose of the Study:

  • To determine if NGS can identify patients with mismatch repair (MMR) gene alterations.
  • To assess the correlation between NGS-identified MMR gene mutations and MMR protein loss by IHC.
  • To support reflex IHC testing after NGS for dMMR identification.

Main Methods:

  • Analysis of 15,701 solid tumor patients undergoing NGS for MMR genes (2016-2021).
  • Comparison of NGS results with IHC data for 4,994 patients.
  • Evaluation of mutation types and tumor distribution.

Main Results:

  • MMR gene mutations were identified in 4.4% of patients across various tumor types.
  • 33.8% of patients with MMR mutations showed MMR protein loss by IHC, versus 4.4% without mutations.
  • IHC loss varied based on specific MMR gene mutation type.

Conclusions:

  • NGS can detect MMR gene mutations in diverse tumor types lacking routine IHC.
  • Reflex IHC testing post-NGS may increase dMMR patient identification for targeted therapies.
  • Dedicated IHC screening remains essential for comprehensive dMMR detection.