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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...

Pedigree Analysis

Pedigree Analysis

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,...

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Author Spotlight: Tracing the Ferroptotic Signatures and Cell Death Dynamics in Medulloblastoma for Advanced Therapeutics

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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Judith E Grolleman¹, Richarda M de Voer¹, Fadwa A Elsayed²

¹Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.

|February 13, 2019

Summary

Biallelic germline mutations in NTHL1 increase cancer risk, particularly extracolonic and breast cancers. NTHL1 deficiency drives a distinct mutational signature across multiple tumor types, aiding syndrome recognition.

Keywords:

DNA repair defect NTHL1 adenomatous polyposis base excision repair breast cancer colorectal cancer genetic predisposition multiple malignancies mutational signature somatic mutation spectrum

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Published on: November 14, 2011

Area of Science:

Genetics and Genomics
Oncology
Molecular Biology

Background:

Biallelic germline mutations in NTHL1 are linked to adenomatous polyposis and colorectal cancer.
The full spectrum of clinical manifestations associated with NTHL1 mutations remains incompletely understood.

Purpose of the Study:

To delineate the complete phenotype of individuals with biallelic germline NTHL1 mutations.
To investigate the mutational processes associated with NTHL1 deficiency across various cancer types.

Main Methods:

Phenotypic characterization of 29 individuals from 17 families with biallelic NTHL1 mutations.
Comprehensive mutational signature analysis of 14 tumors from 7 different organs.

Main Results:

Twenty-six out of 29 individuals developed one or multiple malignancies in 14 distinct tissues.
A significantly high incidence of breast cancer (60%) was observed in female carriers.
NTHL1 deficiency was identified as the primary mutational driver in 93% of analyzed tumors, exhibiting a consistent mutational signature.

Conclusions:

NTHL1 is a multi-tumor predisposition gene associated with a high lifetime risk of extracolonic cancers.
The characteristic mutational signature linked to NTHL1 deficiency can aid in the clinical recognition of this cancer predisposition syndrome.