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Related Concept Videos

Cancer Prevention02:59

Cancer Prevention

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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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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.
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Related Experiment Video

Updated: Jun 13, 2025

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Screening Familial Risk for Hereditary Breast and Ovarian Cancer.

Daniel Kiser1, Gai Elhanan1, Alexandre Bolze2

  • 1University of Nevada Reno School of Medicine, Reno.

JAMA Network Open
|September 25, 2024
PubMed
Summary
This summary is machine-generated.

Most patients with breast cancer genetic risk factors haven't had genetic testing. Electronic health record (EHR) data identified thousands of at-risk individuals, but limitations highlight the need for additional screening methods to close the genetic testing gap.

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Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
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Area of Science:

  • Genomics
  • Oncology
  • Health Informatics

Background:

  • Most patients with pathogenic or likely pathogenic (P/LP) variants for breast cancer remain untested.
  • Identifying individuals with familial risk for hereditary breast and ovarian cancer (HBOC) is crucial for timely genetic testing.

Purpose of the Study:

  • To identify patients meeting family history criteria for genetic testing using electronic health records (EHR).
  • To assess the prevalence of genetic testing and associated cancer risk in patients with positive family history indicators.

Main Methods:

  • Cross-sectional and retrospective cohort analyses of patients aged 18-79 within a large health system.
  • Utilized the Seven-Question Family History Questionnaire (FHS7) criteria within EHR data to identify patients at risk.
  • Primary outcomes included P/LP variants in key breast cancer genes (ATM, BRCA1, BRCA2, CHEK2, PALB2) and cancer diagnosis.

Main Results:

  • Of 835,727 patients, 3.6% were FHS7 positive, with 82% lacking prior genetic testing in their EHR.
  • FHS7-positive status correlated with increased P/LP variants in BRCA1/BRCA2, CHEK2, and PALB2 genes.
  • FHS7-positive status was associated with a significantly increased risk of cancer in females but not males.

Conclusions:

  • EHR-derived FHS7 criteria successfully identified a substantial number of patients with familial breast cancer risk, revealing a significant gap in genetic testing.
  • Limitations in EHR family history data underscore the necessity of complementary methods, like direct-to-patient questionnaires, to fully capture at-risk populations.