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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
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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Related Experiment Video

Updated: Jul 3, 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

Cascade screening in BRCA1/2 mutation carriers.

N Cody1, A Green, T McDevitt

  • 1National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin. nuala.cody@olchc.ie

Irish Medical Journal
|July 16, 2008
PubMed
Summary
This summary is machine-generated.

Genetic counselling for BRCA1/2 mutations in Ireland shows low-moderate uptake. Daughters of carriers are more likely to test than siblings, influenced by family communication.

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Last Updated: Jul 3, 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
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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

Area of Science:

  • Medical Genetics
  • Oncology
  • Public Health

Background:

  • Genetic counselling for BRCA1 and BRCA2 mutations has been accessible in Ireland since 1998.
  • The study examines the cascade testing following initial positive results in 29 index cases.

Purpose of the Study:

  • To evaluate the uptake of genetic counselling and testing for BRCA1/2 mutations within families in Ireland.
  • To identify factors influencing participation in cascade genetic testing.

Main Methods:

  • Retrospective analysis of genetic counselling and testing data for 29 index cases and their relatives.
  • Tracking of sibling and offspring participation in counselling and testing.

Main Results:

  • Overall testing rates were 25% for siblings and 45% for eligible offspring.
  • Uptake was higher in daughters (80%) compared to female siblings (29%) and male siblings (19%).
  • A significant proportion (77%) of at-risk individuals did not attend counselling.

Conclusions:

  • Ireland exhibits a low-moderate rate of BRCA1/2 cascade testing compared to European benchmarks.
  • Family communication and information dissemination significantly impact testing rates.
  • Daughters of carriers show higher engagement than female siblings, suggesting distinct familial dynamics.