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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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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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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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 I: Proto-oncogenes01:33

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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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Mismatch Repair01:20

Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
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Germ line mutations associated with leukemias.

Christopher C Porter1

  • 1Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.

Hematology. American Society of Hematology. Education Program
|December 4, 2016
PubMed
Summary
This summary is machine-generated.

Genetic syndromes increase leukemia risk. Recent discoveries identify new germ line mutations, aiding diagnosis and genetic counseling for leukemia predisposition syndromes.

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Area of Science:

  • Hematology
  • Genetics
  • Oncology

Background:

  • Genetic syndromes are linked to leukemia predisposition.
  • Established syndromes include bone marrow failure, Down, and Li Fraumeni syndromes.
  • Recent research refines understanding of leukemia risk and outcomes in these conditions.

Purpose of the Study:

  • To review current knowledge on genetic syndromes associated with leukemia.
  • To highlight newly identified germ line mutations predisposing to leukemia.
  • To emphasize the clinical importance of diagnosing these syndromes.

Main Methods:

  • Literature review of genetic syndromes and leukemia.
  • Analysis of recent findings on germ line mutations (e.g., ANKRD26, GATA2, PAX5, ETV6, DDX41).
  • Examination of data on DNA damage response genes (e.g., BRCA1/2, TP53) in therapy-related leukemias.

Main Results:

  • Several known genetic syndromes predispose to leukemia.
  • New germ line mutations (ANKRD26, GATA2, PAX5, ETV6, DDX41) define additional predisposition syndromes.
  • Germ line mutations in DNA damage response genes are found in therapy-related leukemias.

Conclusions:

  • Clinical recognition, family history, and suspicion are key for diagnosing leukemia predisposition syndromes.
  • Identifying patients with germ line mutations impacts leukemia management.
  • Accurate diagnosis facilitates genetic counseling for affected families.