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Related Concept Videos

Cancer Prevention02:59

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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.
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Cancer-Critical Genes I: Proto-oncogenes01:33

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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.
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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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Refining Breast Cancer Risk Stratification: Additional Genes, Additional Information.

Allison W Kurian1, Antonis C Antoniou1, Susan M Domchek1

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Genomic sequencing and bioinformatics advances offer new cancer genetic risk assessments. Further research is needed to confirm the clinical validity and utility of these complex genetic tests.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Oncology

Background:

  • Genomic technology and bioinformatics have rapidly advanced, enabling faster and cheaper multi-gene sequencing.
  • New cancer genetic risk assessment strategies include multiplex gene panels and single-nucleotide polymorphism (SNP) panels.

Purpose of the Study:

  • To assess the clinical validity and utility of emerging multi-gene panel tests in cancer risk assessment.
  • To develop improved cancer risk prediction tools integrating genetic and non-genetic factors.

Main Methods:

  • Utilizing multiplex sequencing panels (5-100+ genes) and common SNP panels for genetic risk assessment.
  • Developing predictive models that incorporate joint effects of susceptibility genes and other risk factors.

Main Results:

  • Multiplex panels identify rare mutations linked to increased breast cancer risk (≥2-fold).
  • SNP panels are associated with more modest, but still significant, cancer risks.

Conclusions:

  • While multi-gene panel tests are used in oncology, their clinical validity and utility require further investigation.
  • Ongoing research focuses on refining risk prediction models and evaluating long-term outcomes of risk-adapted screening and prevention strategies.