CanRisk

CanRisk estimates breast and ovarian cancer risk using the BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) model by integrating genetic variants, family history, lifestyle, hormonal and reproductive factors, and mammographic density.

Key Features:

• BOADICEA implementation: Implements the BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) model for risk estimation.
• Multi-factorial integration: Integrates genetic, familial, lifestyle, hormonal, reproductive, clinical, and imaging data to generate multifactorial risk estimates.
• Genetic variant modeling: Models both rare (high- and moderate-risk) variants and common genetic variation using polygenic risk scores.
• Carrier probability estimation: Estimates the probability of carrying pathogenic variants in relevant genes.
• Mammographic density inclusion: Incorporates mammographic density as an imaging risk factor in risk calculations.

Scientific Applications:

• Risk prediction in unaffected women: Predicts future breast and ovarian cancer risks for currently unaffected women to inform early intervention strategies.
• Genetic susceptibility research: Supports studies of genetic susceptibility and cancer risk factors by quantifying contributions of rare variants, polygenic risk scores, and non-genetic factors.
• Personalized medicine: Provides carrier probability estimates for pathogenic variants to inform personalized risk management.

Methodology:

Integrates detailed genetic, familial, lifestyle, hormonal, reproductive, clinical, and mammographic density data to perform multifactorial risk calculations using the BOADICEA model.