Lim Geok-Hoon, Borje Eillen, Allen John C
Breast Department, KK Women's and Children's Hospital, Singapore 229899, Singapore; ; Duke-NUS Graduate Medical School, Singapore 169857, Singapore.
Breast Department, KK Women's and Children's Hospital, Singapore 229899, Singapore.
Gland Surg. 2017 Feb;6(1):35-42. doi: 10.21037/gs.2016.11.05.
Globally, resources for genomic services vary. Current National Comprehensive Cancer Network (NCCN) breast and ovarian genetic/familial high risk assessment criteria for further genetic risk evaluation are useful, but lack specificity for reliably excluding patients with low a priori risk. This may result in patient overload in lesser-equipped genetics clinics. Since we use Manchester and the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) risk assessment models in our genetics clinic to determine whether genetic testing is warranted, we chose Manchester and BOADICEA as the reference standard to compare how the NCCN breast and ovarian genetic/familial high risk assessment criteria for further genetic risk evaluation performs against these two risk assessment models in referring breast cancer patients for genetic evaluation.
Breast cancer patients diagnosed from 2009-2011 were assessed using the NCCN criteria, Manchester and BOADICEA. Logistic regression and receiver operating characteristic (ROC) analysis were used to compare the NCCN criteria versus the Manchester and BOADICEA scoring systems in identifying high-risk patients.
A total of 666 patients were included in the study. Percentages of high-risk patients resulting from Manchester and BOADICEA were 1.80% and 2.55%, respectively. Among the NCCN criteria, breast cancer and ≥1 close relatives with breast cancer at ≤50 years of age correlated best with Manchester and/or BOADICEA (c-statistic =0.831) with a false negative rate of 1.0%.
Breast cancer at any age and ≥1 close relative with breast cancer at ≤50 years of age exhibited the highest correlation with Manchester and/or BOADICEA, promising greater specificity compared to the other NCCN criteria for segregating high risk, Asian breast cancer patients for referral to a genetics clinic, nevertheless recognizing the inherent limitations of the scoring systems.
在全球范围内,基因组服务资源存在差异。当前美国国立综合癌症网络(NCCN)用于进一步遗传风险评估的乳腺癌和卵巢癌遗传/家族性高风险评估标准很有用,但在可靠排除先验风险较低的患者方面缺乏特异性。这可能导致设备较差的遗传学诊所出现患者负担过重的情况。由于我们在遗传学诊所使用曼彻斯特模型以及疾病发病率和携带者估计的乳腺癌和卵巢癌分析算法(BOADICEA)风险评估模型来确定是否需要进行基因检测,因此我们选择曼彻斯特模型和BOADICEA作为参考标准,以比较NCCN用于进一步遗传风险评估的乳腺癌和卵巢癌遗传/家族性高风险评估标准在推荐乳腺癌患者进行基因评估时与这两种风险评估模型相比的表现。
使用NCCN标准、曼彻斯特模型和BOADICEA对2009年至2011年诊断出的乳腺癌患者进行评估。采用逻辑回归和受试者工作特征(ROC)分析来比较NCCN标准与曼彻斯特模型和BOADICEA评分系统在识别高风险患者方面的情况。
该研究共纳入666例患者。曼彻斯特模型和BOADICEA得出的高风险患者百分比分别为1.80%和2.55%。在NCCN标准中,乳腺癌以及年龄≤50岁的≥1名患乳腺癌的近亲与曼彻斯特模型和/或BOADICEA的相关性最佳(c统计量 = 0.831),假阴性率为1.0%。
任何年龄的乳腺癌以及年龄≤50岁的≥1名患乳腺癌的近亲与曼彻斯特模型和/或BOADICEA的相关性最高,与其他NCCN标准相比,在区分高风险亚洲乳腺癌患者以转诊至遗传学诊所方面具有更高的特异性,不过也要认识到评分系统的固有局限性。