BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers
BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers
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BRCA-CRisk：BRCA携带者的单侧乳腺癌风险预测模型
DOI：
10.1200/jco.22.00833
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发表时间：
2022-12
影响因子：
45.3
通讯作者：
Jie Sun;Futao Chu;Jiani Pan;Yaxin Zhang;L. Yao;Jiuan-Nan Chen;L. Hu;Juan Zhang;Ye Xu;Xiaojian Wang;W. Cao;Yuntao Xie
中科院分区：
文献类型：
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作者：
Jie Sun;Futao Chu;Jiani Pan;Yaxin Zhang;L. Yao;Jiuan-Nan Chen;L. Hu;Juan Zhang;Ye Xu;Xiaojian Wang;W. Cao;Yuntao Xie
BRCA 1/2变异患者患对侧乳腺癌（CBC）的绝对累积风险未知。本研究的目的是建立一个CBC风险预测模型，用于评估BRCA 1/2携带者的CBC风险。方法491例BRCA 1/2变异患者的主要队列来自一个大系列的乳腺癌患者。基于该队列的多变量考克斯回归分析结果建立列线图。该模型被命名为BRCA-CRisk，并通过205名BRCA 1/2变异患者的独立队列进行了进一步验证。模型的识别和校准进行了评估。结果在491例患者的主要队列中，66例在中位随访7.0年后发生对侧乳腺癌。四个变量与CBC的风险显著相关，并被纳入BRCA-CRisk预测模型的建立中：（连续变量，P = .002），乳腺癌和/或卵巢癌一级家族史阳性（风险比[HR]，1.89; 95% CI，1.16 - 3.08; P = 0.011），变异位于BRCA 3′区附近（HR，2.01; 95% CI，1.23至3.30; P = .006）和内分泌治疗（HR，0.54; 95% CI，0.33至0.88; P = .013）。CBC的5年和10年累积风险的时间依赖性曲线下面积分别为0.775和0.702。该模型在205名BRCA 1/2携带者的独立队列中得到了很好的验证，5年和10年的曲线下面积分别为0.750和0.691。结论BRCA-CRisk模型为评估BRCA 1/2携带者CBC的绝对累积风险提供了一个有用的工具，可帮助携带者和临床医生根据个体CBC风险最佳选择降低风险的策略。
PURPOSE The absolute cumulative risk of contralateral breast cancer (CBC) for patients with BRCA1/2 variants is unknown. The purpose of this study was to develop a CBC risk prediction model for assessing CBC risk for BRCA1/2 carriers. METHODS The primary cohort of 491 patients with BRCA1/2 variants was derived from a large series of unselected patients with breast cancer. A nomogram was established on the basis of the results of a multivariate Cox regression analysis from this cohort. This model, named BRCA-CRisk, was further validated by an independent cohort of 205 patients with BRCA1/2 variants. Discrimination and calibration of the model were assessed. RESULTS In the primary cohort of 491 patients, 66 developed contralateral breast cancer after a median follow-up of 7.0 years. Four variables were significantly associated with risk of CBC and were incorporated in the establishment of the BRCA-CRisk prediction model: younger age at first breast cancer (with continuous variable, P = .002), positive first-degree family history of breast and/or ovarian cancer (hazard ratio [HR], 1.89; 95% CI, 1.16 to 3.08; P = .011), variant located near the 3′ region of BRCA (HR, 2.01; 95% CI, 1.23 to 3.30; P = .006), and endocrine therapy (HR, 0.54; 95% CI, 0.33 to 0.88; P = .013). The area under the time-dependent curves for the 5- and 10-year cumulative risks of CBC were 0.775 and 0.702, respectively. The model was well validated in the independent cohort of 205 BRCA1/2 carriers, with area under the curves of 0.750 and 0.691 for 5 and 10 years, respectively. CONCLUSION BRCA-CRisk model provides a useful tool for assessing the absolute cumulative risk of CBC for BRCA1/2 carriers and may help carriers and clinicians optimally select risk-reducing strategies on the basis of individual CBC risk.