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Related Concept Videos

Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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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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Mutations01:39

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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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Viral Mutations00:36

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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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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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Point and Frameshift Mutations01:30

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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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Related Experiment Video

Updated: Feb 10, 2026

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Child with RET proto-oncogene codon 634 mutation.

Dilek İnce1, Bengü Demirağ2, Eda Ataseven1

  • 1Departments of Pediatric Oncology, Dokuz Eylül University Faculty of Medicine.

The Turkish Journal of Pediatrics
|May 11, 2018
PubMed
Summary

A child with a RET proto-oncogene c634 mutation inherited from her mother with medullary thyroid carcinoma (MTC) underwent prophylactic surgery. Early intervention is crucial due to the high risk of MTC development and metastasis.

Keywords:
RET proto-oncogene mutationmedullary C cell hyperplasiaprophylactic thyroidectomy

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Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • Medullary thyroid carcinoma (MTC) is strongly associated with RET proto-oncogene mutations.
  • Germline mutations in the RET proto-oncogene confer a high lifetime risk of developing MTC.

Observation:

  • A 7-year-old child presented with a heterozygous RET proto-oncogene c634 mutation, identical to her mother's MTC-associated mutation.
  • The patient exhibited normal thyroid function but mildly elevated serum calcitonin levels.
  • Histopathology revealed C-cell hyperplasia and reactive lymphadenopathy post-prophylactic thyroidectomy.

Findings:

  • The c634 mutation in the RET proto-oncogene is linked to a 100% lifetime risk of MTC.
  • Patients with the c634 mutation face an elevated risk of metastatic and progressive/recurrent MTC.

Implications:

  • Prophylactic thyroidectomy and cervical lymph node dissection before age 5 should be strongly considered for children with RET proto-oncogene c634 mutations.
  • Early genetic screening and surgical intervention are vital for managing hereditary MTC risk in pediatric patients.