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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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Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk.

Sarah S Kalia1, Nicholas J Boddicker2, Siddhartha Yadav2

  • 1Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
|September 11, 2024
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Summary
This summary is machine-generated.

Combining genetic and lifestyle factors improves breast cancer risk prediction. This approach can identify individuals who may not need intensive screening, even with genetic predispositions.

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Area of Science:

  • Oncology
  • Genetics
  • Epidemiology

Background:

  • Breast cancer risk is influenced by monogenic, polygenic, and epidemiologic factors.
  • Previous risk models have limited evaluation of combined risk factor effects.

Purpose of the Study:

  • To develop a breast cancer risk model integrating monogenic, polygenic, and epidemiologic risk factors.
  • To assess the clinical utility of this integrated model for risk stratification.

Main Methods:

  • Utilized data from the CARRIERS Consortium (23,518 cases, 22,832 controls).
  • Incorporated pathogenic variants (PV) in six breast cancer genes, a 105-SNP polygenic risk score (PRS), and an epidemiologic risk score (ERS).

Main Results:

  • An epidemiologic risk score (ERS) significantly stratified risk, especially when combined with PRS.
  • Women with CHEK2 pathogenic variants (PVs) showed varied lifetime risks, with some having low predicted risk (<20%) despite PV presence, potentially impacting screening eligibility.
  • Integration of ERS and PRS identified individuals with predicted risk similar to the general population, irrespective of family history.

Conclusions:

  • The epidemiologic risk score (ERS), alone and combined with the polygenic risk score (PRS), aids in clinically relevant breast cancer risk stratification.
  • Integrating diverse risk factors offers potential for personalized breast cancer screening and prevention strategies.