Development and performance of female breast cancer incidence risk prediction models: a systematic review and...

Accurate breast cancer risk prediction is essential for early detection and personalized prevention strategies. While traditional models, such as Gail and Tyrer-Cuzick, are widely utilized, machine learning-based approaches may offer enhanced predictive performance. This systematic review and meta-analysis compare the accuracy of traditional statistical models and machine learning models in breast cancer risk prediction.

A total of 144 studies from 27 countries were systematically reviewed, incorporating genetic, clinical, and imaging data. Pooled C-statistics were calculated to assess model discrimination, while observed-to-expected (O/E) ratios were used to evaluate calibration. Subgroup and sensitivity analyses were conducted to examine heterogeneity and assess the influence of study bias across various populations.

Machine learning-based models demonstrated superior performance, with a pooled C-statistic of 0.74, compared to 0.67 for traditional models. Models that integrated genetic and imaging data showed the highest levels of accuracy, although performance varied by population. Sensitivity analyses excluding high-bias studies showed improved discrimination in models incorporating genetic factors, with the pooled C-statistic increasing to 0.72. Traditional models, such as Gail, exhibited notably poor predictive accuracy in non-Western populations, as evidenced by a C-statistic of 0.543 in Chinese cohorts.

Machine learning models provide significantly greater predictive accuracy for breast cancer risk, particularly when incorporating multidimensional data. However, issues related to model generalizability and interpretability remain, particularly in diverse populations. Future research should focus on developing more interpretable models and expanding global validation efforts to improve model applicability across different demographic groups.