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Related Concept Videos

The Retinoblastoma Gene01:20

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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...
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.
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Such genes that act...
Tumor Progression02:07

Tumor Progression

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Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...

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Related Experiment Video

Updated: May 19, 2026

Modeling Breast Cancer via an Intraductal Injection of Cre-expressing Adenovirus into the Mouse Mammary Gland
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Modeling Breast Cancer via an Intraductal Injection of Cre-expressing Adenovirus into the Mouse Mammary Gland

Published on: June 7, 2019

BRCA1 mutations and luminal-basal transformation.

T Ng1, S Irshad, J Stebbing

  • 1Richard Dimbleby Department of Cancer Research, Randall Division and Division of Cancer Studies, Kings College London, Guy's Medical School Campus, London, UK.

Oncogene
|August 29, 2012
PubMed
Summary
This summary is machine-generated.

Germline mutations in BRCA1 (Breast Cancer gene 1) impair mammary development and convert ER-positive tumors into basal-like cancers. This highlights BRCA1's crucial role in cell differentiation beyond DNA repair.

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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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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
08:53

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

Published on: February 17, 2011

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • BRCA1 (Breast Cancer gene 1) is known for its role in DNA repair and tumor suppression.
  • Its involvement in transcriptional regulation and cellular differentiation is less understood.
  • BRCA1's function in mammary gland development requires further elucidation.

Purpose of the Study:

  • To investigate the role of BRCA1 in mammary gland development and differentiation.
  • To determine how BRCA1 mutations affect the characteristics of ER-positive luminal tumors.
  • To explore BRCA1's tumor suppressive functions beyond DNA repair.

Main Methods:

  • Analysis of Brca1 germline mutations in mouse models.
  • Assessment of mammary development and luminal cell lineage.
  • Gene expression profiling of tumors to identify molecular changes.

Main Results:

  • Germline Brca1 mutations impair luminal cell lineage and mammary development.
  • BRCA1 deficiency converts ER-positive luminal tumors into basal-like cancers.
  • Heterozygous Brca1 mutations downregulate key luminal differentiation genes.

Conclusions:

  • BRCA1 plays a critical role in regulating transcriptional processes essential for mammary cell differentiation.
  • BRCA1 deficiency contributes to the development of basal-like breast cancers by disrupting luminal differentiation pathways.
  • These findings underscore the importance of BRCA1 in tumor suppression through mechanisms independent of its DNA repair functions.