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Related Concept Videos

Mutations01:39

Mutations

94.5K
Overview
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Mutations01:35

Mutations

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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...
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Viral Mutations00:36

Viral Mutations

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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...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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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).
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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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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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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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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Updated: Feb 4, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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BRCA mutations: is everything said?

Eduardo López-Urrutia1, Victor Salazar-Rojas2, Luis Brito-Elías3

  • 1Laboratorio de Genómica Funcional, Unidad de Biomedicina, FES-IZTACALA, UNAM, Av De Los Barrios 1, Los Reyes Ixtacala, Hab Los Reyes Ixtacala Barrio de los Árboles/Barrio de los Héroes, 54090, Tlalnepantla, MEX, Mexico. e_urrutia@unam.mx.

Breast Cancer Research and Treatment
|October 8, 2018
PubMed
Summary

BRCA1 and BRCA2 mutations increase breast cancer risk. While new mutations are found, few are published, and classification remains inconsistent, hindering understanding of their pathogenicity.

Keywords:
BRCA1BRCA2Breast cancer riskComplex traitsMutation

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Area of Science:

  • Genetics
  • Oncology
  • Bioinformatics

Background:

  • Mutations in BRCA1 and BRCA2 genes are established risk factors for breast cancer.
  • Ongoing research continuously identifies and classifies novel mutations in these critical genes.

Purpose of the Study:

  • To review the current landscape of BRCA1 and BRCA2 mutation description and classification.
  • To identify trends in mutation reporting and assess the proportion of pathogenic mutations.

Main Methods:

  • Analysis of published literature and mutation databases.
  • Review of existing BRCA mutation classification systems.
  • Assessment of functional impact and variant pathogenicity.

Main Results:

  • Few newly identified mutations are reported in scientific papers despite annual database updates.
  • Heterogeneous classification systems lack consensus, complicating standardization.
  • Many BRCA variants remain unanalyzed, with numerous initially unknown significance variants proving pathogenic.
  • Pathogenic mutations can disrupt protein interactions crucial for DNA repair pathways.

Conclusions:

  • Standardization of BRCA mutation classification is needed.
  • Further analysis of variants of unknown significance is crucial for understanding cancer susceptibility.
  • Investigating mutation patterns and combinations may enhance insights into BRCA-related cancer risk.