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对接受临床BRCA基因检测的导管原位癌患者的BRCAPRO风险评估模型的评估。

Evaluation of BRCAPRO Risk Assessment Model in Patients with Ductal Carcinoma In situ Who Underwent Clinical BRCA Genetic Testing.

作者信息

Elsayegh Nisreen, Barrera Angelica M Gutierrez, Muse Kimberly I, Lin Heather, Kuerer Henry M, Helm Monica, Litton Jennifer K, Arun Banu K

机构信息

Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center Houston, TX, USA.

Departments of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center Houston, TX, USA.

出版信息

Front Genet. 2016 Apr 27;7:71. doi: 10.3389/fgene.2016.00071. eCollection 2016.

Abstract

The authors retrospectively aimed to determine which of the following three scenarios, related to DCIS entry into BRCAPRO, predicted BRCA mutation status more accurately: (1) DCIS as an invasive breast cancer (IBC) entered using the actual age of diagnosis, (2) DCIS as IBC entered with 10 years added to the actual age of diagnosis, and (3) DCIS entered as no cancer. Of the 85 DCIS patients included in the study, 19% (n = 16) tested positive for a BRCA mutation, and 81% (n = 69) tested negative. DCIS patients who tested positive for a BRCA mutation had a higher BRCAPRO risk estimation (34.61%) than patients who tested negative (11.4%) when DCIS was entered at the actual age of diagnosis. When DCIS was entered with 10 years added to the actual age at diagnosis, the BRCAPRO estimate was still higher amongst BRCA positive patients (25.4%) than BRCA negative patients (7.1%). When DCIS was entered as no cancer, the BRCAPRO estimate remained higher among BRCA positive patients (2.56%) than BRCA negative patents (1.98%). In terms of accuracy of BRCA positivity, there was no statistically significant difference between DCIS at age at diagnosis, DCIS at 10 years later than age at diagnosis, and DCIS entered as no cancer (AUC = 0.77, 0.784, 0.75, respectively: p = 0.60). Our results indicate that regardless of entry approach into BRCAPRO, there were no significant differences in predicting BRCA mutation in patients with DCIS.

摘要

作者进行回顾性研究,旨在确定与导管原位癌(DCIS)纳入BRCAPRO相关的以下三种情况中,哪一种能更准确地预测BRCA突变状态:(1)将DCIS作为浸润性乳腺癌(IBC),使用实际诊断年龄纳入;(2)将DCIS作为IBC,在实际诊断年龄基础上加10岁纳入;(3)将DCIS作为无癌情况纳入。在该研究纳入的85例DCIS患者中,19%(n = 16)BRCA突变检测呈阳性,81%(n = 69)检测呈阴性。当按照实际诊断年龄将DCIS纳入时,BRCA突变检测呈阳性的DCIS患者的BRCAPRO风险估计值(34.61%)高于检测呈阴性的患者(11.4%)。当在实际诊断年龄基础上加10岁将DCIS纳入时,BRCA阳性患者的BRCAPRO估计值(25.4%)仍高于BRCA阴性患者(7.1%)。当将DCIS作为无癌情况纳入时,BRCA阳性患者的BRCAPRO估计值(2.56%)仍高于BRCA阴性患者(1.98%)。在BRCA阳性预测的准确性方面,诊断年龄时的DCIS、诊断年龄后10年的DCIS以及作为无癌情况纳入的DCIS之间无统计学显著差异(曲线下面积分别为0.77、0.784、0.75:p = 0.60)。我们的结果表明,无论BRCAPRO的纳入方式如何,在预测DCIS患者的BRCA突变方面均无显著差异。

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