中文摘要：

目的探讨BRCA1突变相关乳腺癌的超声影像学表现及其BI-RADS分类特征。方法200例乳腺癌患者术前均行二维超声、彩色多普勒血流显像及超声弹性成像检查，其中经PCR联合基因直接测序法检测出BRCA1基因突变的17例患者为实验组，余183例无BRCA1突变者为对照组。分析BRCA1突变相关乳腺癌的超声影像学表现及其BI—RADS分类特征。结果实验组和对照组的形态、边缘、后方回声、钙化、肿块内血流以及弹性评分等超声表现比较，差异均无统计学意义（P〉0．05），实验组有29．4％（5／17）形态为椭圆形；58．8％（10／17）肿块边缘为小分叶或毛刺；29．4％（5／17）肿块后方回声衰减；41．2％（7／17）肿块内部出现微钙化；52．9％（9／17）肿块内部血流达Ⅱ～Ⅲ级；82．4％（14／17）肿块UE评分为4～5分。BRCA1突变乳腺癌的BI-RADS分类明显低于无BRCA1突变者（u=2．1966，P=0．0280）。结论BRCA1突变相关乳腺癌在形态上趋于良性乳腺肿块表现，其BI—RADS分类易被低判，常规超声结合超声弹性成像检查可减少漏诊。

英文摘要：

Objective To investigate ultrasonographic characteristics and BI-RADS classification of BRCA1 mutation associated breast carcinomas. Methods 200 cases with breast cancer were examined with two-dimensional ultrasonography（2DUS） ,color doppler flow imaging（CDFI） and ultrasound elastography（UE）. Among all the cases, 17 cases who were proved having BRCA1 gene mutation by PCR-DNA sequencing were selected as the experimental group,and the rest 183 cases without BRCAt gene mutation as the control group. The ultrasonographic features and BI-RADS classification of BRCA1 mutation-associated breast carcinomas were analysed. Results The were no signifi- cant differences in ultrasonography findings including morpha, fringe, posterior acoustic, blood flow within calcified masses, elasticity score, etc. , between two groups（ P 〉0.05）. In the experimental group, 5 masses （ 29.4 % ） displayed an oval shape, 10 masses （58.8 % ） with microlobulated or spiculated margins, 5 masses （29.4 %） with decreased posterior echoes,7 masses（41.2%） showing microcalcifications in mass, 9 masses （52.9%） presenting vascularity from grade[I tom and 14 masses （82.4%） with UE score from 4 to 5. The BI-RADS classification of BRCA1 mutation-associated breast carcinomas was lower than those without BRCA1 mutation（ u = 2. 1966, P = 0. 0280）. Conclusion BRCA1 mutation-associated breast carcinomas frequently show more benign characteristics in morphology, and BI- RADS classifications are prone to be underestimated. Conventional ultrasonography combined with UE can reduce misdiagnosis of them.