Five screening-detected breast cancer cases in initially disease-free BRCA1 or BRCA2 mutation carriers
Five screening-detected breast cancer cases in initially disease-free BRCA1 or BRCA2 mutation carriers
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DOI：
10.1007/s12282-019-00971-6
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发表时间：
2019-11-01
期刊：
影响因子：
4
通讯作者：
Arai, Masami
中科院分区：
文献类型：
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作者：
Shimada, Satoko;Yoshida, Reiko;Arai, Masami
携带致病性BRCA 1或BRCA 2突变的个体患乳腺癌和/或卵巢癌的终生风险增加。在日本，监测下的无病BRCA突变携带者中乳腺癌的发病率以及随后发生疾病的患者的临床和病理特征尚不清楚。我们回顾了2000年1月至2016年12月期间通过基因检测确定的155名BRCA 1或BRCA 2突变个体的记录。在基因检测时，26名具有这些突变之一的个体没有乳腺癌病史，因此参加了一项监测计划，其中包括半年一次的超声检查，临床乳腺检查，每年一次的乳房X光检查和条件性磁共振成像，以早期发现原发性乳腺癌。在监测期间，5名携带BRCA 1或BRCA 2突变的个体被诊断为原发性乳腺癌。乳腺癌诊断前的平均监测时间为48个月。在最初无疾病的BRCA突变携带者中，监测期间原发性乳腺癌的发病率为4.23%/年。在两个病例中，肿瘤仅在MRI上可检测到。病例5的患者通过自我检查发现肿瘤，然后迅速生长，患有IIB期三阴性乳腺癌。总之，我们的研究结果表明，在BRCA 1或BRCA 2突变携带者的乳腺癌早期检测中存在一些挑战。在日本社会中接近这些人也存在一些困难。
Individuals carrying pathogenic BRCA1 or BRCA2 mutations have an increased lifetime risk of breast and/or ovarian cancer. The incidence of breast cancer amongst disease-free BRCA mutation carriers under surveillance and the clinical and pathological characteristics of those who subsequently develop the disease remain unclear in Japan. We reviewed the records of 155 individuals with BRCA1 or BRCA2 mutations identified by genetic testing between January 2000 and December 2016. At the time of genetic testing, 26 individuals with one of these mutations had no history of breast cancer and were therefore enrolled in a surveillance program that included biannual ultrasonography, clinical breast examination, annual mammography, and conditional magnetic resonance imaging for the early detection of primary breast cancer. During the surveillance period, 5 individuals with BRCA1 or BRCA2 mutations were diagnosed with primary breast cancer. The mean surveillance duration until breast cancer diagnosis was 48 months. The incidence of primary breast cancer during surveillance in initially disease-free BRCA mutation carriers was 4.23%/year. In two cases, the tumors were only detectable on MRI. The case 5 patient who presented with a tumor that was detected by self-examination, which then grew rapidly, had stage IIB triple-negative breast cancer. In conclusion, our results show that some challenges exist in the early detection of breast cancers in BRCA1 or BRCA2 mutation carriers. There are also some difficulties in approaching those individuals in Japanese society.