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Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Mutations in Microorganisms

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Related Experiment Video

Updated: Feb 5, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

Published on: December 7, 2014

Comparative mutational evaluation of multiple lung cancers by multiplex oncogene mutation analysis.

Yuta Takahashi¹, Kazuhiko Shien¹, Shuta Tomida²

¹Department of General Thoracic Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

|September 15, 2018

Summary

Distinguishing multiple primary lung cancer (MP) from intrapulmonary metastasis (IM) is crucial. Multiplex mutational analysis using next-generation sequencing (NGS) complements histopathology for accurate classification of multiple lung cancers.

Keywords:

classification clonality gene mutation multiple lung cancer next-generation sequencing

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Last Updated: Feb 5, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

Published on: December 7, 2014

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Published on: March 10, 2023

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Area of Science:

Oncology
Genetics
Thoracic Surgery

Background:

Accurate differentiation between multiple primary lung cancer (MP) and intrapulmonary metastasis (IM) is critical for optimal patient management.
Histopathological evaluation can be challenging in cases of synchronous or metachronous multiple lung cancer (MLC).

Purpose of the Study:

To investigate the mutational profiles of synchronous/metachronous MLC.
To compare the classification of paired tumors using multiplex gene mutation analysis versus traditional histopathological evaluation.

Main Methods:

Targeted sequencing of 20 lung cancer-related oncogenes via next-generation sequencing (NGS).
Analysis of 82 tumors from 37 MLC patients diagnosed using Martini and Melamed criteria, histopathology, and gene mutational evaluations.

Main Results:

Matching mutations were observed in 54% of patients diagnosed as IM by mutational evaluation.
Histopathological IM cases were confirmed by mutational analysis in 86% of instances.
Mutational evaluation provided discordant diagnoses in 47% of histopathological MP cases, suggesting potential utility in these instances.

Conclusions:

Multiplex mutational analysis serves as a valuable complementary tool for differentiating MP from IM in multiple lung cancer.
NGS-based mutational profiling aids in refining diagnoses, particularly in equivocal histopathological cases.