Phi Xuan-Anh, Saadatmand Sepideh, De Bock Geertruida H, Warner Ellen, Sardanelli Francesco, Leach Martin O, Riedl Christopher C, Trop Isabelle, Hooning Maartje J, Mandel Rodica, Santoro Filippo, Kwan-Lim Gek, Helbich Thomas H, Tilanus-Linthorst Madeleine M A, van den Heuvel Edwin R, Houssami Nehmat
Department of Epidemiology, University of Groningen, University Medical Center Groningen, Postbus 30 001, 9700RB Groningen, The Netherlands.
Department of Surgical Oncology, Erasmus University Medical Center Rotterdam, Groene Hilledijk 301, 3075EA Rotterdam, The Netherlands.
Br J Cancer. 2016 Mar 15;114(6):631-7. doi: 10.1038/bjc.2016.32. Epub 2016 Feb 23.
We investigated the additional contribution of mammography to screening accuracy in BRCA1/2 mutation carriers screened with MRI at different ages using individual patient data from six high-risk screening trials.
Sensitivity and specificity of MRI, mammography and the combination of these tests were compared stratified for BRCA mutation and age using generalised linear mixed models with random effect for studies. Number of screens needed (NSN) for additional mammography-only detected cancer was estimated.
In BRCA1/2 mutation carriers of all ages (BRCA1 = 1,219 and BRCA2 = 732), adding mammography to MRI did not significantly increase screening sensitivity (increased by 3.9% in BRCA1 and 12.6% in BRCA2 mutation carriers, P > 0.05). However, in women with BRCA2 mutation younger than 40 years, one-third of breast cancers were detected by mammography only. Number of screens needed for mammography to detect one breast cancer not detected by MRI was much higher for BRCA1 compared with BRCA2 mutation carriers at initial and repeat screening.
Additional screening sensitivity from mammography above that from MRI is limited in BRCA1 mutation carriers, whereas mammography contributes to screening sensitivity in BRCA2 mutation carriers, especially those ⩽ 40 years. The evidence from our work highlights that a differential screening schedule by BRCA status is worth considering.
我们利用来自六项高危筛查试验的个体患者数据，调查了在不同年龄接受MRI筛查的BRCA1/2突变携带者中，乳腺钼靶检查对筛查准确性的额外贡献。
使用具有研究随机效应的广义线性混合模型，对BRCA突变和年龄进行分层，比较MRI、乳腺钼靶检查以及这两种检查联合使用时的敏感性和特异性。估计仅通过乳腺钼靶检查发现癌症所需的筛查次数（NSN）。
在所有年龄段的BRCA1/2突变携带者中（BRCA1 = 1219例，BRCA2 = 732例），在MRI检查基础上增加乳腺钼靶检查并未显著提高筛查敏感性（BRCA1突变携带者中提高了3.9%，BRCA2突变携带者中提高了12.6%，P>0.05）。然而，在年龄小于40岁的BRCA2突变女性中，三分之一的乳腺癌仅通过乳腺钼靶检查被发现。在初次和重复筛查时，BRCA1突变携带者相比BRCA2突变携带者，乳腺钼靶检查发现一例未被MRI检测到的乳腺癌所需的筛查次数要高得多。
在BRCA1突变携带者中，乳腺钼靶检查相对于MRI检查额外提高的筛查敏感性有限，而乳腺钼靶检查对BRCA2突变携带者的筛查敏感性有贡献，尤其是那些年龄≤40岁的携带者。我们研究的证据突出表明，值得考虑根据BRCA状态制定差异化的筛查方案。
