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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...
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...
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...
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...

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Updated: May 16, 2026

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
08:15

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

Published on: October 6, 2014

Genotype in BRCA-associated breast cancers.

Funda Meric-Bernstam1, Angelica M Gutierrez-Barrera, Jennifer Litton

  • 1Departments of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. fmeric@mdanderson.org

The Breast Journal
|December 13, 2012
PubMed
Summary

Over half of BRCA1 and a third of BRCA2 mutations linked to breast cancer occurred in lower-risk gene regions. Further research is needed to refine personalized cancer screening and prevention strategies for these individuals.

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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

Published on: February 17, 2011

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

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Last Updated: May 16, 2026

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
08:15

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

Published on: October 6, 2014

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

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

Area of Science:

  • Oncology
  • Genetics
  • Cancer Research

Background:

  • Women with BRCA1 or BRCA2 mutations face elevated breast cancer risk.
  • Specific mutation locations within BRCA1 and BRCA2 genes are associated with varying risk levels.

Purpose of the Study:

  • To investigate the positional distribution of BRCA1 and BRCA2 mutations in breast cancer patients.
  • To explore potential genotype-phenotype correlations between mutation location and tumor characteristics.

Main Methods:

  • Retrospective review of 164 BRCA1 and 109 BRCA2-associated breast cancer patients.
  • Analysis of mutation site, patient demographics, and tumor characteristics.
  • Comparison of mutation locations (5' vs. 3' for BRCA1, OCCR vs. non-OCCR for BRCA2).

Main Results:

  • 52% of BRCA1 mutations and 37% of BRCA2 mutations were in regions previously considered lower risk.
  • BRCA1-associated tumors were more frequently estrogen receptor/progesterone receptor-negative (ER/PR-) than BRCA2-associated tumors.
  • No significant difference in tumor characteristics was observed based on mutation location within either BRCA1 or BRCA2.

Conclusions:

  • A substantial proportion of BRCA1/2-associated breast cancers involve mutations in potentially lower-risk regions.
  • Current findings suggest a need for continued vigilance in cancer screening and prevention, even with mutations in these areas.
  • Further genotype-phenotype correlation studies are essential for developing individualized prevention strategies.