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Related Concept Videos

Mutations01:35

Mutations

41.5K
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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Mutations01:39

Mutations

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Overview
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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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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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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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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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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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Functional annotation of noncoding mutations in cancer.

Husen M Umer1,2, Karolina Smolinska1, Jan Komorowski1,3,4,5

  • 1Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.

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Cancer genomes harbor numerous mutations in noncoding DNA. Researchers identified specific regulatory mutations, particularly near CCAAT/Enhancer Binding Protein β sites, impacting gene regulation and cancer progression.

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Area of Science:

  • Genomics
  • Cancer Biology
  • Bioinformatics

Background:

  • Noncoding sequences constitute the majority of somatic mutations in cancer genomes.
  • Mutations in regulatory elements can influence gene expression and contribute to cancer development.

Purpose of the Study:

  • To systematically screen and prioritize regulatory mutations across a large cancer genome dataset.
  • To investigate the potential roles of these mutations in cancer progression.

Main Methods:

  • Analysis of somatic mutations in 2,515 whole cancer genomes from the Pan-Cancer Analysis of Whole Genomes cohort.
  • Identification and prioritization of mutations within regulatory elements.
  • Assessment of mutation enrichment patterns, including association with specific mutational signatures and transcription factor binding sites.

Main Results:

  • Significant enrichment of regulatory mutations near CpG sites within CCAAT/Enhancer Binding Protein β recognition sites, particularly associated with the deamination signature.
  • Identification of 5,749 mutated regulatory elements across 1,844 tumor samples.
  • An average of six regulatory mutations per tumor, with 5.5% of samples exhibiting 20 or more such mutations.
  • Enrichment of cancer-related pathways in genes located near mutated regulatory elements.

Conclusions:

  • Regulatory mutations play a significant role in cancer genomes, affecting gene regulation and potentially driving cancer.
  • The study provides a comprehensive catalog of mutated regulatory elements and highlights their association with specific mutational processes and transcription factor binding sites.
  • These findings offer insights into the functional impact of noncoding mutations in cancer.