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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...

Mutations

Mutations

Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

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...

Cancer-Critical Genes I: Proto-oncogenes

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

Cancer-Critical Genes II: Tumor Suppressor Genes

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

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: Dec 20, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Beyond the coding genome: non-coding mutations and cancer.

Kaivalya Walavalkar¹, Dimple Notani²

¹Department of Cellular Organization and Signaling, National Centre for Biological Sciences, Tata Institute for Fundamental Research, Bangalore 560065, India.

Frontiers in Bioscience (Landmark Edition)

|May 31, 2020

Summary

This summary is machine-generated.

Recent genomic studies reveal most genetic variations, including common and rare variants and copy number variations (CNVs), reside in the non-coding genome. Mutations in this "Medical Genome" drive aberrant gene expression, leading to cellular transformations and malignancies.

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Last Updated: Dec 20, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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Published on: October 18, 2013

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Area of Science:

Genomics
Molecular Biology
Cancer Genetics

Background:

Genomic studies across diverse populations have identified numerous genetic variants and copy number variations (CNVs).
A significant portion of human genetic variation is located in non-coding DNA regions, often termed the 'Medical Genome'.
Non-coding regions play crucial roles in regulating gene expression.

Purpose of the Study:

To review the role of genetic variations in the non-coding genome.
To explain how mutations in regulatory elements contribute to cancer development.
To highlight the importance of the 'Medical Genome' in understanding disease.

Main Methods:

Literature review of recent genomic studies.
Analysis of the impact of non-coding variants on gene regulation.
Discussion of mechanisms linking non-coding mutations to cellular transformation.

Main Results:

The majority of genetic variation occurs in non-coding DNA, not coding regions.
Mutations in regulatory sequences, architectural proteins, and transcriptional regulators alter gene expression.
Aberrant gene expression profiles resulting from non-coding mutations drive malignancies.

Conclusions:

The non-coding genome ('Medical Genome') is a critical source of disease-causing variations.
Understanding non-coding genetic variations is essential for comprehending the molecular basis of cancer.
Targeting regulatory elements in the non-coding genome may offer new therapeutic strategies.