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Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Related Experiment Video

Updated: Oct 27, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application.

Parth S Shah1, Edward G Hughes2, Shrey S Sukhadia3

  • 1Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Genome Informatics, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Dartmouth Cancer Center, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.

The Journal of Molecular Diagnostics : JMD
|July 7, 2024
PubMed
Summary

This study validates the DH-CancerSeq assay, a whole-exome sequencing method for cancer genomic testing. It offers standardized, cost-effective, and clinically actionable results comparable to targeted panels.

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Area of Science:

  • Oncology
  • Genomics
  • Bioinformatics

Background:

  • Next-generation sequencing (NGS) is crucial for cancer genomic testing but faces institutional challenges due to varied needs and resources.
  • Diverse gene panels lead to unequal patient care, highlighting the need for standardization without restrictive kits or costly revalidations.

Purpose of the Study:

  • To validate and clinically implement the DH-CancerSeq assay, a novel whole-exome sequencing approach.
  • To establish a standardized, cost-effective genomic testing method for diverse institutional settings.

Main Methods:

  • Development and validation of the DH-CancerSeq assay, a tumor-only whole-exome sequencing assay.
  • Integration of informatics for streamlined data analysis.
  • Comparative analysis of DH-CancerSeq against a validated targeted gene panel.

Main Results:

  • The DH-CancerSeq assay demonstrated comparable input requirements, sensitivity, and specificity to existing targeted gene panels.
  • Similar turnaround times were maintained, ensuring timely patient care.
  • Successful clinical implementation across diverse institutional settings was achieved.

Conclusions:

  • The DH-CancerSeq assay provides a standardized and validated whole-exome sequencing solution for tumor genomic testing.
  • This approach addresses the challenges of resource variability and promotes equitable patient care globally.
  • DH-CancerSeq offers a cost-effective alternative to traditional targeted panels, enhancing clinical utility.