BRCAPRO 6.0模型在接受BRCA检测的男性患者中的验证
BRCAPRO 6.0 Model Validation in Male Patients Presenting for BRCA Testing.
作者信息
Mitri Zahi I, Jackson Michelle, Garby Carolyn, Song Juhee, Giordano Sharon H, Hortobágyi Gabriel N, Singletary Claire N, Hashmi S Shahrukh, Arun Banu K, Litton Jennifer K
机构信息
University of Texas MD Anderson Cancer Center, Houston, Texas, USA; Baylor Charles A. Sammons Cancer Center, Baylor University Medical Center, Dallas, Texas, USA; University of Texas Health and Science Center at Houston, Houston, Texas, USA.
University of Texas MD Anderson Cancer Center, Houston, Texas, USA; Baylor Charles A. Sammons Cancer Center, Baylor University Medical Center, Dallas, Texas, USA; University of Texas Health and Science Center at Houston, Houston, Texas, USA
出版信息
Oncologist. 2015 Jun;20(6):593-7. doi: 10.1634/theoncologist.2014-0425. Epub 2015 May 6.
BACKGROUND
BRCAPRO is a risk assessment model to estimate the risk of carrying a BRCA mutation. BRCA mutation carriers are at higher risk of developing breast, ovarian, pancreatic, and prostate cancer. BRCAPRO was developed for women and found to be superior to other risk assessment models. The present study evaluated the validity of BRCAPRO at predicting the risk of male patients carrying a BRCA mutation.
PATIENTS AND METHODS
A total of 146 men who presented for genetic counseling and testing from February1997 to September 2011, and their test results were included in the present study. BRCAPRO risk assessment for all patients was calculated using the BRCAPRO clinical CancerGene assessment software.
RESULTS
The mean age at presentation was 57 years. Of the 146 patients, 48 had breast cancer, 18 had pancreatic cancer, 39 had prostate cancer, 27 had other primary cancers, and 37 had no cancer. Fifty patients (34%) tested positive for a BRCA mutation (22 BRCA1, 27 BRCA2, and 1 BRCA1 and BRCA2). The mean BRCAPRO score for all patients was 24.96%. The BRCAPRO score was significantly higher for patients who tested positive for a BRCA mutation (46.19% vs. 13.9%, p < .01). The area under the receiver operating characteristics curve was 0.83 for all patients for the BRCAPRO score to predict the risk of carrying a BRCA mutation. At a cutoff point of 30.02%, the sensitivity, specificity, positive predictive value, and negative predictive value were 0.74, 0.81, 0.67, and 0.86, respectively.
CONCLUSION
BRCAPRO appears to be a valid risk assessment tool for determining the risk of carrying a BRCA mutation in men.
IMPLICATIONS FOR PRACTICE
Men carrying genetic mutations in the BRCA gene have a greater risk than the general population of developing certain types of cancer, including breast, pancreatic, and prostate cancer. BRCAPRO is a risk assessment model that predicts the risk of carrying a BRCA mutation. The present study aimed at validating BRCAPRO for use with men seen for genetic counseling, whether affected by cancer or not. The data available for 146 patients revealed that BRCAPRO was effective at identifying patients at risk of BRCA mutation. These findings could help in identifying a subset of high-risk patients who should proceed to genetic testing.
背景
BRCAPRO是一种用于评估携带BRCA基因突变风险的风险评估模型。BRCA基因突变携带者患乳腺癌、卵巢癌、胰腺癌和前列腺癌的风险更高。BRCAPRO是针对女性开发的，且被发现优于其他风险评估模型。本研究评估了BRCAPRO在预测男性携带BRCA基因突变风险方面的有效性。
患者与方法
共有146名男性于1997年2月至2011年9月前来接受遗传咨询和检测，他们的检测结果被纳入本研究。使用BRCAPRO临床癌症基因评估软件对所有患者进行BRCAPRO风险评估。
结果
就诊时的平均年龄为57岁。在这146名患者中，48人患有乳腺癌，18人患有胰腺癌，39人患有前列腺癌，27人患有其他原发性癌症，37人未患癌症。50名患者（34%）BRCA基因突变检测呈阳性（22例BRCA1突变，27例BRCA2突变，1例BRCA1和BRCA2双突变）。所有患者的平均BRCAPRO评分为24.96%。BRCA基因突变检测呈阳性的患者BRCAPRO评分显著更高（46.19%对13.9%，p <.01）。对于所有患者，BRCAPRO评分预测携带BRCA基因突变风险的受试者工作特征曲线下面积为0.83。在截断点为30.02%时，敏感性、特异性、阳性预测值和阴性预测值分别为0.74、0.81、0.67和0.86。
结论
BRCAPRO似乎是一种用于确定男性携带BRCA基因突变风险的有效风险评估工具。
对实践的启示
携带BRCA基因遗传突变的男性患某些类型癌症（包括乳腺癌、胰腺癌和前列腺癌）的风险高于普通人群。BRCAPRO是一种预测携带BRCA基因突变风险的风险评估模型。本研究旨在验证BRCAPRO在接受遗传咨询的男性（无论是否患癌）中的应用。146名患者的现有数据显示，BRCAPRO在识别有BRCA基因突变风险的患者方面是有效的。这些发现有助于识别应进行基因检测的高危患者亚组。
Zotero 插件