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Related Concept Videos

Mismatch Repair

Mismatch Repair

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...

Mismatch Repair

Mismatch Repair

Mismatch Repair

Mismatch Repair

Nucleotide Excision Repair

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 Repair

Nucleotide Excision Repair

Long-patch Base Excision Repair

Long-patch Base Excision Repair

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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Related Experiment Video

Updated: Mar 25, 2026

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis

Published on: June 19, 2018

Mismatch repair deficiency testing in clinical practice.

Natalia Buza¹, James Ziai², Pei Hui¹

¹a Department of Pathology, School of Medicine , Yale University , New Haven , CT , USA.

Expert Review of Molecular Diagnostics

|February 20, 2016

Summary

Lynch syndrome, caused by DNA mismatch repair gene mutations, increases cancer risk. Diagnosis involves genetic testing of MMR genes (MLH1, PMS2, MSH2, MSH6) and EPCAM to confirm Lynch syndrome.

Keywords:

Colorectal and Endometrial cancers DNA mismatch repair gene Lynch syndrome Microsatellite instability

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Last Updated: Mar 25, 2026

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis

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Published on: June 19, 2018

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

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Application of Stopped-flow Kinetics Methods to Investigate the Mechanism of Action of a DNA Repair Protein

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Published on: March 31, 2010

Area of Science:

Genetics
Oncology
Molecular Biology

Background:

Lynch syndrome is an inherited disorder caused by DNA mismatch repair (MMR) gene mutations.
It leads to genetic instability and significantly increases the risk of cancers, especially colorectal and endometrial malignancies.

Purpose of the Study:

To review the genetic basis of Lynch syndrome.
To discuss methodologies for testing MMR gene deficiency.
To outline current diagnostic algorithms for Lynch syndrome management.

Main Methods:

Immunohistochemistry and PCR-based microsatellite instability analysis for screening MMR deficiency in tumor tissues.
Comprehensive sequencing analysis of germline DNA to identify mutations in MMR genes (MLH1, PMS2, MSH2, MSH6) or EPCAM for definitive diagnosis.

Main Results:

MMR gene deficiency is a hallmark of Lynch syndrome, leading to microsatellite instability (MSI).
Screening tests identify potential Lynch syndrome families, but germline DNA sequencing is required for definitive diagnosis.

Conclusions:

Accurate diagnosis of Lynch syndrome relies on identifying mutations in key MMR genes or EPCAM.
Understanding diagnostic algorithms is crucial for effective clinical management and genetic counseling.