Decipher Clinical and Genetic Underpins of Breast Cancer Survival with Machine Learning Methods

Zhengkai Zhuang
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Abstract

Breast cancer is one of the most common cancers among women in the world, with more than two million new cases of breast cancer every year. This disease is associated with numerous clinical and genetic characteristics. In recent years, machine learning technology has been increasingly applied to the medical field, including predicting the risk of malignant tumors such as breast cancer. Based on clinical and targeted sequencing data of 1980 primary breast cancer samples, this article aimed to analyze these data and predict living conditions after breast cancer. After data engineering, feature selection, and comparison of machine learning methods, the light gradient boosting machine model was found the best with hyperparameter tuning (precision = 0.818, recall = 0.816, f1 score = 0.817, roc-auc = 0.867). And the top 5 determinants were clinical features age at diagnosis, Nottingham Prognostic Index, cohort and genetic features rheb, nr3c1. The study shed light on rational allocation of medical resources and provided insights to early prevention, diagnosis and treatment of breast cancer with the identified risk clinical and genetic factors.
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用机器学习方法破译乳腺癌生存的临床和遗传基础
乳腺癌是世界上女性中最常见的癌症之一,每年有200多万新发乳腺癌病例。这种疾病与许多临床和遗传特征有关。近年来,机器学习技术越来越多地应用于医疗领域,包括预测乳腺癌等恶性肿瘤的风险。本文基于1980例原发性乳腺癌样本的临床和靶向测序数据,旨在对这些数据进行分析并预测乳腺癌后的生存状况。经过数据工程、特征选择和机器学习方法比较,发现采用超参数调优的光梯度增强机器模型效果最佳(precision = 0.818, recall = 0.816, f1 score = 0.817, roc-auc = 0.867)。前5位决定因素为临床特征诊断年龄、诺丁汉预后指数、队列和遗传特征rheb, nr3c1。该研究为合理配置医疗资源提供了思路,为乳腺癌临床及遗传风险因素的早期预防、诊断和治疗提供了思路。
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