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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 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 Prevention02:59

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
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 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 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 13, 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

Genetic testing for cancer predisposition.

C Eng1, H Hampel, A de la Chapelle

  • 1Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA. eng-1@medctr.osu.edu

Annual Review of Medicine
|February 13, 2001
PubMed
Summary
This summary is machine-generated.

Clinical cancer genetics is crucial for patient care, offering valuable genetic testing for hereditary cancer syndromes. This approach aids in identifying at-risk individuals and guides medical management for better outcomes.

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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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Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
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Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

Area of Science:

  • Oncology
  • Medical Genetics

Background:

  • Clinical cancer genetics is increasingly vital in modern cancer patient care.
  • Understanding hereditary cancer susceptibility syndromes is essential for proactive healthcare.

Purpose of the Study:

  • To review the clinical features, genetic basis, and management strategies for major hereditary cancer susceptibility syndromes.
  • To delineate the utility and accessibility of genetic testing across various hereditary cancer syndromes.

Main Methods:

  • Literature review of clinical aspects, genetics, and management of hereditary cancer syndromes.
  • Analysis of the current status and impact of genetic testing for identified syndromes.

Main Results:

  • Genetic testing is standard of care for syndromes like Multiple Endocrine Neoplasia type 2, von Hippel-Lindau disease, and familial adenomatous polyposis due to its sensitivity, affordability, and impact on medical management.
  • Genetic counseling and testing show potential benefit for hereditary breast cancer, hereditary nonpolyposis colorectal cancer, Peutz-Jeghers syndrome, and juvenile polyposis.
  • Genetic testing is not yet available or clinically beneficial for Li-Fraumeni syndrome and hereditary malignant melanoma.

Conclusions:

  • Identifying families with hereditary cancer syndromes is key for timely referral to cancer genetics professionals.
  • Genetic testing and counseling are integral components of comprehensive cancer care, influencing medical management and patient outcomes.
  • The availability and utility of genetic testing vary across different hereditary cancer syndromes, necessitating careful consideration in clinical practice.