BOADICEA和BRCAPRO遗传模型以及基于癌症家族史的经验标准在预测BRCA突变携带者概率方面的表现：一项针对意大利癌症遗传学诊所样本的回顾性研究。

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics.

作者信息

Varesco L, Viassolo V, Viel A, Gismondi V, Radice P, Montagna M, Alducci E, Della Puppa L, Oliani C, Tommasi S, Caligo M A, Vivanet C, Zuradelli M, Mandich P, Tibiletti M G, Cavalli P, Lucci Cordisco E, Turchetti D, Boggiani D, Bracci R, Bruzzi P, Bonelli L

机构信息

Unit of Hereditary Cancer, IRCCS AOU San Martino - IST, Largo Rosanna Benzi, 10, 16132 Genoa, Italy.

出版信息

Breast. 2013 Dec;22(6):1130-5. doi: 10.1016/j.breast.2013.07.053. Epub 2013 Sep 5.

DOI:10.1016/j.breast.2013.07.053

PMID:24011770

Abstract

PURPOSE

To evaluate in current practice the performance of BOADICEA and BRCAPRO risk models and empirical criteria based on cancer family history for the selection of individuals for BRCA genetic testing.

PATIENTS AND METHODS

The probability of BRCA mutation according to the three tools was retrospectively estimated in 918 index cases consecutively undergone BRCA testing at 15 Italian cancer genetics clinics between 2006 and 2008.

RESULTS

179 of 918 cases (19.5%) carried BRCA mutations. With the strict use of the criteria based on cancer family history 173 BRCA (21.9%) mutations would have been detected in 789 individuals. At the commonly used 10% threshold of BRCA mutation carrier probability, the genetic models showed a similar performance [PPV (38% and 37%), sensitivity (76% and 77%) and specificity (70% and 69%)]. Their strict use would have avoided around 60% of the tests but would have missed approximately 1 every 4 carriers.

CONCLUSION

Our data highlight the complexity of BRCA testing referral in routine practice and question the strict use of genetic models for BRCA risk assessment.

摘要

目的

在当前实践中评估BOADICEA和BRCAPRO风险模型以及基于癌症家族史的经验标准在选择进行BRCA基因检测个体方面的性能。

患者与方法

回顾性估计了2006年至2008年间在15家意大利癌症遗传学诊所连续接受BRCA检测的918例索引病例根据这三种工具携带BRCA突变的概率。

结果

918例病例中有179例（19.5%）携带BRCA突变。严格按照基于癌症家族史的标准，在789名个体中可检测到173例BRCA（21.9%）突变。在常用的BRCA突变携带者概率10%阈值下，遗传模型表现相似[阳性预测值（38%和37%）、敏感性（76%和77%）和特异性（70%和69%）]。严格使用这些模型可避免约60%的检测，但每4名携带者中会遗漏约1名。