Why integrated modeling matters
Breast cancer risk isn’t defined by a single factor. At Allelica, we combine three critical components for a comprehensive and actionable view of each individual’s risk:
- Monogenic variants (e.g., BRCA1/2, PALB2, CHEK2, ATM, and others) identified through clinical whole exome sequencing (WES)
- Multi-ancestry polygenic risk scores (PRS) calibrated across diverse populations
- Clinical risk models such as Tyrer-Cuzick and BOADICEA that integrate family history, imaging, hormonal, and reproductive factors
By bringing together these three dimensions of data, the Allelica integrated breast cancer risk assessment enables clinicians to deliver more precise, equitable, and individualized care, whether evaluating monogenic carriers or women with no known variants.
Refining risk for monogenic carriers
Not all carriers of the same monogenic variant face equal risk. This example shows how Allelica’s multi-ancestry PRS further stratifies lifetime breast cancer risk among women carrying a CHEK2 pathogenic variant. PRS risk stratification identifies with confidence women with risk either above or below the guideline threshold, enabling clinicians to personalize precise screening and prevention strategies instead of applying a one-size-fits-all approach.
Features at a glance
- Comprehensive assessment: We combine Tyrer-Cuzick and BOADICEA with Allelica’s multi-ancestry genetic analysis for a unified risk estimate.
- Enhanced risk stratification: For both monogenic carriers and non-carriers, the integrated model refines risk beyond what clinical or genetic data alone can provide.
- Inclusive performance: Our PRSs are built and validated from multi-ancestry datasets to maintain accuracy and equity across populations.