Fang Suying, Kuo Yaolung, Lin Pengchan
Department of Nursing, College of Medicine, National Cheng Kung University, Tainan City, Taiwan.
Department of Nursing, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan City, Taiwan.
J Genet Couns. 2025 Jun;34(3):e70010. doi: 10.1002/jgc4.70010.
Risk screening tools recommended by the United States Preventative Services Task Force (USPSTF) are used to screen potential BRCA1/2 pathogenic variant carriers. The purpose of this study was to identify an appropriate breast cancer risk-screening tool for genetic referral among women with a family history of breast cancer in Taiwan.
A cross-sectional design with convenience sampling was used in this study. Women with a family history of breast cancer but not diagnosed with breast cancer were recruited from surgical outpatient clinics. Sociodemographic and family cancer history were collected based on the screening tools. Both the Tyrer-Cuzick (IBIS) and BRCAPRO were used as a Gold standard to evaluate the accuracy of five screening tools. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and the areas under the receiver-operating curve (AUC) were compared to identify the most accurate one to determine women with elevated risk as defined by IBIS and BRCAPRO calculations with lifetime risk over 15%.
One hundred twenty-four women with a family history of breast cancer but not yet diagnosed as breast cancer were recruited in this study. When the Tyrer-Cuzick (IBIS) was used as the standard, the AUC for the tools ranged from 0.490 to 0.562. When the BRCAPRO was used as the standard, the p values of the Ontario Family History Assessment Tool (Ontario-FHAT) (p = 0.003) and Pedigree Assessment Tool (PAT) (p = 0.016) were significant, and the AUCs were 0.938 and 0.854 for Ontario-FHAT and PAT, respectively. Since the sensitivity of Ontario-FHAT was 100, which is higher than PAT, we considered that using Ontario-FHAT in Taiwanese women would be better than using PAT.
Ontario-FHAT would be an appropriate screening tool for identifying individuals in Taiwan who may need a genetic referral for further BRCA1/2 risk evaluation.
美国预防服务工作组（USPSTF）推荐的风险筛查工具用于筛查潜在的BRCA1/2致病基因变异携带者。本研究的目的是为台湾有乳腺癌家族史的女性确定一种合适的乳腺癌风险筛查工具，用于基因转诊。
本研究采用便利抽样的横断面设计。从外科门诊招募有乳腺癌家族史但未被诊断为乳腺癌的女性。根据筛查工具收集社会人口统计学和家族癌症病史。将泰勒-库齐克（IBIS）和BRCAPRO均用作金标准，以评估五种筛查工具的准确性。比较敏感性、特异性、阳性预测值（PPV）、阴性预测值（NPV）以及受试者工作特征曲线下面积（AUC），以确定最准确的工具，从而识别出根据IBIS和BRCAPRO计算出终身风险超过15%的风险升高女性。
本研究招募了124名有乳腺癌家族史但尚未被诊断为乳腺癌的女性。以泰勒-库齐克（IBIS）为标准时，各工具的AUC范围为0.490至0.562。以BRCAPRO为标准时，安大略家族史评估工具（Ontario-FHAT）（p = 0.003）和系谱评估工具（PAT）（p = 0.016）的p值具有统计学意义，Ontario-FHAT和PAT的AUC分别为0.938和0.854。由于Ontario-FHAT的敏感性为100，高于PAT，因此我们认为在台湾女性中使用Ontario-FHAT比使用PAT更好。
Ontario-FHAT将是一种合适的筛查工具，用于识别台湾可能需要进行基因转诊以进一步评估BRCA1/2风险的个体。
