Lerner-Ellis Jordan, Khalouei Sam, Sopik Victoria, Narod Steven A
a 1 Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Canada.
d 4 Women's College Research Institute, Women's College Hospital, Toronto, Canada.
Expert Rev Anticancer Ther. 2015;15(11):1315-26. doi: 10.1586/14737140.2015.1090879. Epub 2015 Nov 2.
Multigene panel tests are being increasingly used for the genetic assessment of women with an apparent predisposition to breast cancer. Here, we review all studies reporting results from individuals who have undergone multigene panel testing for hereditary breast cancer. Across all gene panel studies, the prevalence of pathogenic mutations was highest in BRCA1 (5.3%) and BRCA2 (3.6%) and was lowest in PTEN (0.1%), CDH1 (0.1%) and STK11 (0.01%). After BRCA1/2, the prevalence of pathogenic mutations was highest in CHEK2 (1.3%), PALB2 (0.9%) and ATM (0.8%). The prevalence of variants of unknown significance was highest in ATM (9.6%). Based on the prevalence and penetrance of pathogenic mutations and the prevalence of variants of unknown significance, it is our interpretation that BRCA1, BRCA2, PALB2 and CHEK2 are the best candidates for inclusion in a clinical multigene breast cancer panel.
多基因检测面板越来越多地用于对明显易患乳腺癌的女性进行基因评估。在此，我们回顾了所有报告接受遗传性乳腺癌多基因检测面板检测个体结果的研究。在所有基因检测面板研究中，致病性突变的患病率在BRCA1（5.3%）和BRCA2（3.6%）中最高，在PTEN（0.1%）、CDH1（0.1%）和STK11（0.01%）中最低。在BRCA1/2之后，致病性突变的患病率在CHEK2（1.3%）、PALB2（0.9%）和ATM（0.8%）中最高。意义未明变异的患病率在ATM中最高（9.6%）。基于致病性突变的患病率和外显率以及意义未明变异的患病率，我们认为BRCA1、BRCA2、PALB2和CHEK2是纳入临床多基因乳腺癌检测面板的最佳候选基因。
