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Related Concept Videos

Cancer Stem Cells and Tumor Maintenance02:40

Cancer Stem Cells and Tumor Maintenance

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Early diagnosis and treatment can often cure cancer. However, even with treatment, residual cells called cancer stem cells (CSC) might remain, often causing tumor recurrence. These cancer stem cells possess the potential for self-renewal and multi-lineage differentiation and are often responsible for the therapeutic resistance displayed in most cancers.
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Multipotency of Hematopoietic Stem Cells01:19

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The hematopoietic stem cells or HSCs are multipotent, meaning they can differentiate and give rise to all blood and immune cells. HSCs are maintained in the quiescent stage until an external stimulus initiates their differentiation. The multipotent HSCs exist as two heterogeneous populations, long-term repopulating cells (LTRC) and short-term repopulating cells (STRC). The two HSC populations have different surface markers or receptors and are classified based on quiescence and long-term...
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Regulation of Hematopoietic Stem Cells01:01

Regulation of Hematopoietic Stem Cells

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All blood and immune cells are produced from the multipotent hematopoietic stem cells (HSCs) by the process of hematopoiesis. However, they all have a limited life span. In addition, many are depleted in immune surveillance or combatting an injury or infection. This makes blood one of the most regenerative tissues. Hematopoiesis helps replenish these blood and immune cells, restoring the body's normal functioning. However, overproduction of blood and immune cells can make them cancerous or...
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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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Distinctive Features of Adult Stem Cells vs Cancer Stem Cells01:18

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A stem cell is an unspecialized cell that can divide without limit as needed and can, under specific conditions, differentiate into specialized cells.
Adult stem cells
Adult stem cells are tissue-specific; hence, they divide to develop the tissue from which they originate. One type of adult stem cell is the epithelial stem cell, which gives rise to the keratinocytes in the multiple layers of epithelial cells in the epidermis of the skin. Adult bone marrow has three distinct types of stem cells:...
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Targeted Cancer Therapies02:57

Targeted Cancer Therapies

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The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
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Updated: Mar 8, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

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Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function.

Victoria E Mgbemena1, Robert A J Signer2, Ranjula Wijayatunge1

  • 1Department of Internal Medicine, Hematology/Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Cell Reports
|January 26, 2017
PubMed
Summary
This summary is machine-generated.

BRCA1 (Breast Cancer gene 1) is crucial for maintaining hematopoietic stem cells (HSCs) and normal blood formation. Specific BRCA1 mutations significantly impair hematopoiesis, highlighting its essential role in blood cell development.

Keywords:
BRCA1 mutationsCreFanconi anemiagene targetinghematopoiesishematopoietic stem cellshumanizationpancytopenia

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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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Area of Science:

  • Genetics
  • Hematology
  • Oncology

Background:

  • BRCA1 is a known DNA repair protein and tumor suppressor.
  • Its specific function in hematopoiesis (blood cell formation) remains unclear.
  • Patients with BRCA1 mutations show increased chemotherapy-related hematopoietic toxicity.

Purpose of the Study:

  • To investigate the role of BRCA1 in hematopoiesis.
  • To determine if BRCA1 is essential for hematopoietic stem cell (HSC) maintenance.

Main Methods:

  • Generated genetically modified mice with Brca1 mutations in hematopoietic cells.
  • Utilized Vav1-iCre and Mx1-Cre systems for conditional gene knockout.
  • Assessed hematopoietic stem and progenitor cell populations in mutant mice.

Main Results:

  • Mice with a null Brca1 mutation in embryonic hematopoietic cells exhibited reduced HSCs.
  • Mice with a mutant human BRCA1 allele and a null allele showed a complete loss of HSCs and progenitor cells.
  • Distinct Brca1 mutations resulted in varying degrees of hematopoietic dysfunction.

Conclusions:

  • BRCA1 is essential for HSC maintenance and normal hematopoiesis.
  • The severity of hematopoietic defects correlates with specific BRCA1 mutations.
  • These findings clarify BRCA1's critical role in blood cell development.