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Related Concept Videos

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 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...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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...
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...

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Updated: May 14, 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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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

Breast cancer and genetics.

L Boeri1, C Canzonieri, C Cagioni

  • 1Department of Pediatric Sciences and Human and Hereditary Pathology, University of Pavia, Italy.

Journal of Ultrasound
|February 12, 2013
PubMed
Summary

Genetic factors significantly increase breast cancer risk, particularly in families with early-onset or bilateral disease. Identifying genes like BRCA1 and BRCA2 aids in risk assessment and genetic counseling for hereditary breast cancer.

Keywords:
BRCA1 geneBRCA2 geneBreast cancer gene

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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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Area of Science:

  • Oncology
  • Genetics
  • Epidemiology

Background:

  • Breast cancer aggregation has been recognized for centuries, with practical discussions emerging in the 19th century.
  • Studies indicate increased hereditary risk associated with early-onset, bilateral breast cancer, or concurrent ovarian cancer.
  • Epidemiological data and family studies since the 1990s have been crucial for identifying genetic links.

Purpose of the Study:

  • To review the epidemiological evidence for hereditary breast cancer.
  • To highlight the identification and significance of key genes involved in hereditary breast cancer.
  • To discuss the implications for genetic counseling and risk evaluation.

Main Methods:

  • Review of epidemiological studies on breast cancer family aggregation.
  • Analysis of data from family studies to identify disease genes.
  • Identification and cloning of major susceptibility genes, BRCA1 and BRCA2.

Main Results:

  • Consistent evidence supports an autosomal dominant inheritance pattern with reduced penetrance for hereditary breast cancer.
  • BRCA1 was identified as the first gene linked to hereditary breast cancer, followed by BRCA2.
  • BRCA1 and BRCA2 genes, identified in 1995, show minimal homology.

Conclusions:

  • Genetic factors play a significant role in breast cancer development.
  • Identification of BRCA1 and BRCA2 has advanced understanding of hereditary breast cancer.
  • Genetic counseling and risk assessment are vital for individuals with a family history of breast cancer.