Genetic and Clinical Predictors for Breast Cancer Risk Assessment and Stratification Among Chinese Women

CONTEXT AND CAVEATS
Prior knowledge

Most of the genetic variants identified in genome-wide association studies of breast cancer conducted primarily among women of European ancestry have not been validated in Asian women. Consequently, no risk assessment model that incorporates both genetic and clinical predictors is currently available to predict breast cancer risk in this population.
Study design

Case–control study evaluating associations between the 12 single-nucleotide polymorphisms identified as risk variants and the risk of breast cancer among Chinese women participating in the Shanghai Breast Cancer Study as well as the cumulative risk of breast cancer associated with combinations of these risk variants. A risk assessment model that incorporates both newly identified genetic variants and traditional risk factors was developed, and its performance in risk prediction was evaluated.

Contribution

Eight of the 12 single-nucleotide polymorphisms were also associated with the risk of breast cancer among Chinese women. An aggregate measure of the combined effect of multiple genetic risk variants had moderate discriminatory accuracy by itself but in combination with established risk factors for breast cancer showed promise for stratifying women into high- vs low-risk groups.
Implications

A risk assessment model that includes both genetic markers and clinical predictors may be useful to classify Asian women into relevant risk groups for cost-efficient screening and other prevention programs.

Limitations

The moderate discriminatory accuracy provided by the full risk assessment model established in this study is inadequate for cancer diagnosis and screening. The absolute risk estimates provided by the model would be applicable only to populations with rates comparable to those of Shanghai.