Department of Clinical Research, Faculty of Medicine, University of Basel, Basel, Switzerland.
Oncogenetics and Cancer Prevention, Geneva University Hospitals, Geneva, Switzerland.
Br J Cancer. 2020 Sep;123(5):860-867. doi: 10.1038/s41416-020-0937-0. Epub 2020 Jun 22.
The clinical utility of machine-learning (ML) algorithms for breast cancer risk prediction and screening practices is unknown. We compared classification of lifetime breast cancer risk based on ML and the BOADICEA model. We explored the differences in risk classification and their clinical impact on screening practices.
We used three different ML algorithms and the BOADICEA model to estimate lifetime breast cancer risk in a sample of 112,587 individuals from 2481 families from the Oncogenetic Unit, Geneva University Hospitals. Performance of algorithms was evaluated using the area under the receiver operating characteristic (AU-ROC) curve. Risk reclassification was compared for 36,146 breast cancer-free women of ages 20-80. The impact on recommendations for mammography surveillance was based on the Swiss Surveillance Protocol.
The predictive accuracy of ML-based algorithms (0.843 ≤ AU-ROC ≤ 0.889) was superior to BOADICEA (AU-ROC = 0.639) and reclassified 35.3% of women in different risk categories. The largest reclassification (20.8%) was observed in women characterised as 'near population' risk by BOADICEA. Reclassification had the largest impact on screening practices of women younger than 50.
ML-based reclassification of lifetime breast cancer risk occurred in approximately one in three women. Reclassification is important for younger women because it impacts clinical decision- making for the initiation of screening.
机器学习(ML)算法在乳腺癌风险预测和筛查实践中的临床实用性尚不清楚。我们比较了基于 ML 和 BOADICEA 模型的终生乳腺癌风险分类。我们探讨了风险分类的差异及其对筛查实践的临床影响。
我们使用三种不同的 ML 算法和 BOADICEA 模型,在来自日内瓦大学医院肿瘤遗传学单位的 2481 个家族的 112587 名个体中估计终生乳腺癌风险。使用接收者操作特征曲线下的面积(AU-ROC)评估算法的性能。对 36146 名年龄在 20-80 岁之间无乳腺癌的女性进行风险重新分类。根据瑞士监测方案,基于风险推荐乳房 X 线摄影监测。
基于 ML 的算法(0.843≤AU-ROC≤0.889)的预测准确性优于 BOADICEA(AU-ROC=0.639),并重新分类了 35.3%的不同风险类别的女性。在 BOADICEA 定义的“接近人群”风险的女性中观察到最大的重新分类(20.8%)。重新分类对 50 岁以下女性的筛查实践影响最大。
大约三分之一的女性会出现基于 ML 的终生乳腺癌风险重新分类。重新分类对年轻女性很重要,因为它会影响开始筛查的临床决策。