Somatic Mutation

Somatic mutation is a change in the DNA sequence of a body cell that arises after fertilization and is generally not passed to offspring. It can result from DNA replication errors, environmental damage, or failures in DNA repair, and is transmitted to descendant cells when the affected cell divides. The mutation may have no detectable effect, alter cell function, or provide a growth advantage that contributes to clonal expansion and cancer. Studying somatic mutations helps researchers understand tumor development, tissue diversity, aging, and disease progression, while mutation profiling supports diagnosis, prognosis, and the selection of targeted therapies.

Somatic Mutation - Related Videos

Education

JoVE Core - Molecular Biology

Cancers Originate from Somatic Mutations in a Single Cell

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2021

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...

Cancers Originate from Somatic Mutations in a Single Cell

0 Views •

2023

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...

Research

JoVE Journal - Genetics

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

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Cited by 5 •

2017

Wild-type blocking PCR followed by direct sequencing offers a highly sensitive method of detection for low frequency somatic mutations in a variety of sample types.

Wild-Type Blocking PCR to Detect Low-Frequency Somatic Mutations

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2025

This video describes wild-type blocking polymerase chain reaction, or WTB-PCR, which detects somatic mutations. The PCR-based technique uses a locked nucleic acid, or LNA, an oligonucleotide that binds to its complementary wild-type allele and blocks its elongation. The blocking selectively allows the amplification of low-level mutant alleles over their wild-type variants in the sample.

Quantification of Colonic Stem Cell Mutations

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Cited by 1 •

2015

We report significant improvements for the reproducible measurement of somatic colonic stem cell mutations after exposure of mice to potential DNA damaging agents.

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