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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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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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Fixed Action Patterns

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A fixed action pattern (FAP) is a specific, hard-wired sequence of behaviors that occurs in response to an external stimulus, called a sign stimulus. The behavior is “fixed” because it is essentially unchangeable—proceeding similarly across individuals of a species every time it occurs.
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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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Surface Tension
The various IMFs between identical molecules of a substance are examples of cohesive forces. The molecules within a liquid are surrounded by other molecules and are attracted equally in all directions by the cohesive forces within the liquid. However, the molecules on the surface of a liquid are attracted only by about one-half as many molecules. Because of the unbalanced molecular attractions on the surface molecules, liquids contract to form a shape that minimizes the number...
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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Moving From Mutation to Actionability.

Ilaria Colombo1, Katherine C Kurnit1, Shannon N Westin1

  • 1From the Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX; University of Toronto, Department of Medicine, Toronto, ON, Canada.

American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting
|September 21, 2018
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing advances tumor biology insights and personalized medicine in gynecologic cancers. Identifying predictive biomarkers is key to optimizing targeted therapies and improving patient outcomes.

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Area of Science:

  • Oncology
  • Genomics
  • Personalized Medicine

Background:

  • High-throughput next-generation sequencing (NGS) provides deep insights into tumor biology.
  • Targeted therapies and FDA-approved agents (e.g., PARP inhibitors, bevacizumab, pembrolizumab) are increasingly used in gynecologic cancers.
  • Personalized medicine relies on identifying predictive biomarkers for targeted treatment selection.

Purpose of the Study:

  • To highlight the importance of predictive biomarkers for enhancing targeted therapy effectiveness in gynecologic cancers.
  • To discuss challenges and propose solutions for integrating genomic profiling into clinical treatment decisions.
  • To explore the potential of studying exceptional responders to uncover novel biomarkers and therapeutic strategies.

Main Methods:

  • Review of current applications of next-generation sequencing in gynecologic oncology.
  • Analysis of approved targeted agents and their predictive biomarkers.
  • Discussion of limitations in current genotyping approaches, including tumor heterogeneity and clonal evolution.
  • Exploration of innovative clinical trial designs (e.g., adaptive, basket trials).

Main Results:

  • NGS enables comprehensive tumor profiling, aiding personalized medicine.
  • Several targeted agents are approved for specific gynecologic cancer subtypes based on molecular characteristics.
  • Challenges remain in assessing tumor heterogeneity and implementing routine genotyping.
  • Studying exceptional responders can yield valuable insights into tumor biology and biomarker discovery.

Conclusions:

  • Predictive biomarker identification is crucial for optimizing targeted therapy in gynecologic cancers.
  • Addressing challenges in tumor heterogeneity assessment and trial design is necessary for wider clinical adoption of genomic approaches.
  • Investigating exceptional responders holds promise for advancing personalized oncology and identifying novel therapeutic targets.