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Related Concept Videos

Mutations01:39

Mutations

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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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Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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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

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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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Generation of Action Potential in Skeletal Muscles01:24

Generation of Action Potential in Skeletal Muscles

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Every cell in the body maintains a membrane potential due to an uneven distribution of positive and negative charges across its plasma membrane. The membrane potential is measured in millivolts and quantifies the difference in charge across the membrane.
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Related Experiment Video

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Isolated Hepatic Perfusion as a Treatment for Liver Metastases of Uveal Melanoma
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Potential Mutations in Uveal Melanoma Identified Using Targeted Next-Generation Sequencing.

Jiayi Yu1, Xiaowen Wu1, Junya Yan1

  • 1Peking University Cancer Hospital & Institute, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of Renal Cancer and Melanoma, No. 52 Fucheng Road, Haidian District, Beijing, China, 100142.

Journal of Cancer
|February 6, 2019
PubMed
Summary

This study identified new uveal melanoma (UM) genetic mutations, including in HIF1A and FOXO1, which are linked to worse survival and metastasis. These findings offer insights into UM

Keywords:
FOXO1HIF1A.metastasisuveal melanoma

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Area of Science:

  • Oncology
  • Genetics
  • Ophthalmology

Background:

  • Uveal melanoma (UM) is the most common intraocular malignancy.
  • Metastatic UM currently lacks effective treatment options.
  • Understanding UM genetics is crucial for developing new therapies.

Purpose of the Study:

  • To investigate the genetic landscape of UM in a non-Caucasian population using targeted next-generation sequencing (NGS).
  • To identify novel genetic drivers and mutations associated with UM pathogenesis and metastatic potential.

Main Methods:

  • Targeted NGS of a 35-gene panel on 107 UM patient samples (tumour and blood).
  • DNA extraction from formalin-fixed, paraffin-embedded (FFPE) specimens.
  • Clinical data collection and survival analysis.

Main Results:

  • Recurrent mutations identified in known UM drivers (GNAQ, GNA11).
  • Somatic mutations in FOXO1, PIK3R1, and HIF1A found in over 20% of patients, suggesting novel associations with UM.
  • HIF1A and FOXO1 mutations correlated with worse overall survival (OS) and increased metastatic transformation.
  • FOXO1 mutation identified as an independent prognostic factor for OS.

Conclusions:

  • Targeted NGS analysis provides new insights into UM molecular genetics.
  • Identified mutations, particularly in HIF1A and FOXO1, are associated with poor prognosis and metastatic potential in UM.
  • Findings may guide future therapeutic strategies targeting UM metastasis.