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Mutations01:39

Mutations

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Mutations01:35

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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.
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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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The air in the lungs is measured in volumes and capacities. Lung volume measures reflect the amount of air taken in, released, or left over after a lung function, like a single inhalation. Lung capacity measures are sums of two or more lung volume measures.
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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
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Germline mutations in lung cancer.

Takehito Shukuya1, Kazuhisa Takahashi2

  • 1Department of Respiratory Medicine, Juntendo University School of Medicine, Tokyo, Japan; Division of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.

Respiratory Investigation
|January 15, 2019
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Summary

Genetic testing for lung cancer is crucial. Next-generation sequencing and liquid biopsies are improving the detection of rare germline mutations that may predispose individuals to lung cancer.

Keywords:
Germline mutationLiquid biopsyLung cancerNext-generation sequencing

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Diagnostics

Background:

  • Genetic testing for oncogenic driver mutations is standard in lung cancer treatment.
  • Germline mutations predisposing to lung cancer are uncommon but increasingly identified.
  • Next-generation sequencing (NGS) and liquid biopsy enhance germline mutation detection.

Purpose of the Study:

  • To review germline mutations found in lung cancer patients.
  • To discuss the implications of these findings in clinical practice.
  • To outline future perspectives in the field.

Main Methods:

  • Literature review of studies on germline mutations in lung cancer.
  • Analysis of data from next-generation sequencing.
  • Evaluation of liquid biopsy techniques for germline mutation detection.

Main Results:

  • Identification of various germline mutations associated with lung cancer risk.
  • Increased detection rates of germline abnormalities due to advanced sequencing technologies.
  • Demonstration of liquid biopsy's potential in identifying germline mutations non-invasively.

Conclusions:

  • Germline mutation testing is becoming more relevant in lung cancer management.
  • Technological advancements are improving the detection of heritable cancer predispositions.
  • Future research should focus on the clinical utility and therapeutic implications of germline mutations in lung cancer.