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Related Concept Videos

Enzyme-linked Receptors01:00

Enzyme-linked Receptors

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Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
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The Ras Gene02:38

The Ras Gene

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The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
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Mutations01:39

Mutations

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Overview
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Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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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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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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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 8, 2025

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
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Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

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NTRK point mutations and their functional consequences.

Corey Rogers1, Jennifer J D Morrissette1, Robyn T Sussman1

  • 1Department of Pathology and Laboratory Medicine, Division of Precision and Computational Diagnostics, University of Pennsylvania, 3020 Market Street, Suite 220, Philadelphia, PA 19104, USA.

Cancer Genetics
|December 31, 2021
PubMed
Summary
This summary is machine-generated.

NTRK gene mutations, beyond fusions, can drive cancer growth and TKI resistance. This review explores these mutations, their oncogenic roles, and potential targeted therapies, including cfDNA monitoring.

Keywords:
Drug resistanceNGSNTRKPoint mutationsTKI

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
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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

Published on: September 20, 2016

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Area of Science:

  • Molecular Biology
  • Oncology
  • Genetics

Background:

  • Neurotrophic receptor tyrosine kinase (NTRK) genes (NTRK1, NTRK2, NTRK3) encode receptors crucial for cell survival and differentiation.
  • Mutations in NTRK genes are implicated in various cancers.
  • While NTRK gene fusions are well-studied, point mutations also contribute to oncogenesis and therapy resistance.

Purpose of the Study:

  • To review NTRK gene mutations beyond fusions.
  • To discuss mutations conferring oncogenic activity and TKI resistance.
  • To explore targeted therapies and cfDNA for mutation detection.

Main Methods:

  • Literature review of NTRK gene mutations.
  • Analysis of oncogenic roles and resistance mechanisms.
  • Evaluation of targeted therapy and cfDNA detection methods.

Main Results:

  • NTRK point mutations can drive oncogenesis and confer resistance to tyrosine-kinase inhibitors (TKIs).
  • Some NTRK variants may be treatable with specific targeted therapies.
  • Cell-free DNA (cfDNA) shows utility in monitoring resistance mutations.

Conclusions:

  • NTRK point mutations represent a significant area in cancer biology and targeted therapy.
  • Understanding these mutations is crucial for effective cancer treatment strategies.
  • cfDNA analysis offers a promising non-invasive approach for monitoring treatment response and resistance.