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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

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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The Retinoblastoma Gene

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.
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Cancer-Critical Genes II: Tumor Suppressor Genes

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.
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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.
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Mutations01:39

Mutations

Overview
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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.
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

Published on: November 26, 2018

Recurrent gene mutations in CLL.

Alejandra Martínez-Trillos1, Víctor Quesada, Neus Villamor

  • 1Unidad de Hematopatologia, Departamento de Anatomía Patológica, Hospital Clinic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.

Advances in Experimental Medicine and Biology
|September 10, 2013
PubMed
Summary

Next-generation sequencing reveals significant genetic heterogeneity in chronic lymphocytic leukemia (CLL). Understanding these somatic mutations offers new diagnostic biomarkers and therapeutic targets for CLL patients.

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Area of Science:

  • Oncology
  • Genomics
  • Hematology

Background:

  • Next-generation sequencing (NGS) has revolutionized the understanding of chronic lymphocytic leukemia (CLL) by providing comprehensive genomic data.
  • Previous studies estimated a low mutation rate in hematological neoplasms, with less than one mutation per megabase.

Purpose of the Study:

  • To comprehensively analyze somatic mutations in chronic lymphocytic leukemia (CLL) using whole-genome and whole-exome sequencing.
  • To investigate the oncogenic pathways and clinical implications of identified mutations in CLL.
  • To explore the differences in mutation patterns between CLL subtypes with mutated and unmutated IGHV.

Main Methods:

  • Whole-genome and whole-exome sequencing of chronic lymphocytic leukemia (CLL) samples.
  • Bioinformatic analysis to identify and characterize somatic mutations.
  • Comparison of mutation patterns across different CLL subtypes and with solid tumors.

Main Results:

  • Somatic mutation rates in CLL are lower than in solid tumors but consistent with previous estimates for hematological neoplasms.
  • Distinct mutation patterns were observed between CLL with unmutated IGHV and mutated IGHV, reflecting known clinical differences.
  • High genetic heterogeneity was identified, with numerous genes mutated at low frequencies and a few at 10-15% frequency.
  • Mutated genes frequently involved pathways such as NOTCH1 signaling, RNA splicing, innate inflammatory response, Wnt signaling, and DNA damage/cell cycle control.

Conclusions:

  • Genomic analysis highlights the molecular heterogeneity of chronic lymphocytic leukemia (CLL).
  • Identified mutations and pathways represent potential novel biomarkers for CLL diagnosis and prognosis.
  • These findings may lead to the development of targeted therapeutic strategies for CLL management.