Prevalence and differentiation of hereditary breast and ovarian cancers in Japan
Prevalence and differentiation of hereditary breast and ovarian cancers in Japan
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DOI：
10.1007/s12282-013-0503-1
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发表时间：
2015-09-01
期刊：
影响因子：
4
通讯作者：
Shimizu, Tadao
中科院分区：
文献类型：
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作者：
Nakamura, Seigo;Takahashi, Masato;Shimizu, Tadao
我们收集了有关BRCA1/2在日本的患病率和特征的必要数据。根据NCCN指南，我们对BRCA1/2的研究收集了截至2012年3月底在日本8个机构的320名具有强烈乳腺癌家族史的个体的数据。结果260例先证者中，BRCA1阳性46例（17.7%），brca2阳性35例（13.5%）。因此，总病理突变率为30.7%。37例BRCA1突变乳腺手术后病理资料，其中23例（62.2%）为三阴性（TN）。另一方面，29例（82.9%）BRCA2突变为Luminal型。最常见的BRCA1突变位点是L63X，在10个家庭中发现。L63X以前在日本的研究中报道过，它可能是一个创始突变。我们发现了两个通过多重连接依赖探针扩增检测到的大缺失病例。一个是整个外显子20的缺失和缺乏外显子1-9。有卵巢癌家族史的TN占11/20（55%）。40岁以下（年龄）15/23（65.2%）和17/32（53.1%）家族史中有一种或多种乳腺癌的TN BRCA1突变发生率较高。结论遗传性乳腺癌和卵巢癌（HBOC）在日本的患病率可能与美国或欧洲几乎相同。如果考虑TN病例，BRCA1的比例更高。L63X可能是日本的创始突变之一。建立全国性的HBOC数据库对于开发日本BRCA1/2携带者的风险模型具有重要意义。
Background We assembled needed data on the prevalence and characteristics of BRCA1/2 in Japan. Materials and methods Our study of BRCA1/2 collected data at eight institutions in Japan on 320 individuals with a strong family history of breast cancer, according to the NCCN guidelines, by the end of March 2012.Results Among 260 proband cases, 46 (17.7 %) were positive for BRCA1, and 35 (13.5 %) were BRCA2-positive. Therefore, the total pathological mutation rate was 30.7 %. Pathology data after breast surgery were obtained from 37 cases of BRCA1 mutation, 23 (62.2 %) of which were triple negative (TN). On the other hand, 29 cases (82.9 %) of BRCA2 mutations were Luminal type. The most prevalent BRCA1 mutation site was L63X, found in 10 families. L63X was reported previously by studies in Japan, and it may be a founder mutation. We found two cases of large deletion detected by multiplex ligation-dependent probe amplification. One was an entire deletion of exon 20 and the lacked exons 1-9. TN with a family history of ovarian cancer was 11/20 (55 %). TN under 40-year-old (y.o.) 15/23 (65.2 %) and TN with one or more breast cancers in family history 17/32 (53.1 %) showed higher incidences of BRCA1 mutation.Conclusion Hereditary breast and ovarian cancer (HBOC) may have nearly the same prevalence in Japan as in the US or Europe. If TN cases are taken into account, the ratio of BRCA1 is higher. L63X may be one of the founder mutations in Japan. A nationwide database of HBOC is important to develop risk models for BRCA1/2 carriers in Japan.