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Related Concept Videos

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.
Such genes that act...
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.
Such genes that act...
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,...
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,...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

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.
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...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

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.
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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Updated: May 31, 2026

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

Cancer predisposing mutations in BRCT domains.

Alessandra di Masi1, Francesca Gullotta, Valentina Cappadonna

  • 1Department of Biology and Interdepartmental Laboratory for Electron Microscopy, University Roma Tre, Viale Guglielmo Marconi 446, I-00146 Roma, Italy. dimasi@uniroma3.it

IUBMB Life
|June 24, 2011
PubMed
Summary

The breast cancer 1 (BRCA1) carboxy-terminal (BRCT) superfamily proteins are crucial for DNA repair and cell cycle control. Mutations in their BRCT domains are linked to cancer susceptibility.

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

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Published on: February 17, 2011

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

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Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Proteins with breast cancer 1 (BRCA1) carboxy-terminal (BRCT) domains are key players in DNA damage response and cell cycle regulation.
  • These domains act as scaffolding elements in protein complexes, facilitating interactions.
  • BRCA1, nibrin (NBN), and microcephalin (MCPH1) are models for cancer-prone syndromes, featuring BRCT domains that bind phosphorylated proteins.

Purpose of the Study:

  • To critically analyze the structure of BRCT domains.
  • To elucidate the roles of BRCA1, NBN, and MCPH1 in DNA damage sensing, repair, and cell cycle control.
  • To examine the pathological consequences of mutations within the BRCT domains of these proteins.

Main Methods:

  • Structural analysis of BRCT domains.
  • Functional studies on DNA damage response pathways.
  • Investigation of cell cycle regulation mechanisms.
  • Analysis of mutation data and associated cancer susceptibility.

Main Results:

  • BRCT domains provide a flexible scaffolding framework for multi-protein complexes.
  • BRCA1, NBN, and MCPH1 are essential for DNA repair and cell cycle checkpoints.
  • Mutations in BRCT domains of BRCA1, NBN, and MCPH1 lead to cancer susceptibility in both homozygous and heterozygous states.

Conclusions:

  • The BRCT domain is a critical structural motif involved in DNA damage response and cell cycle control.
  • Dysfunctional BRCT domains in BRCA1, NBN, and MCPH1 significantly increase cancer risk.
  • Understanding BRCT domain structure and function is vital for comprehending cancer pathogenesis.