高频率的BRCA2 c.5576_5579del 携带者 在日本的Kakogawa,日本
Haruna Nakamura1,2, Sachiko Mizumoto2, Hirokazu Tanino3
1Department of Breast Surgery, Kakogawa Central City Hospital, Kakogawa, Japan.
Cancer diagnosis & prognosis
|May 6, 2024
概括
BRCA2 c.5576_5579del创始基因突变在日本的兵庫縣普遍存在,尤其是在Kakogawa市. 这种突变的携带者更容易患三阴性乳腺癌.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 流行病学 流行病学
背景情况:
- 在特定人群中,BRCA1/2基因的创始突变是常见的.
- 在BRCA1/2中出现的日本创始基因突变显示出区域分布变异.
- 了解这些分布对于评估乳腺癌风险至关重要.
研究的目的:
- 调查BRCA1/2创始突变在日本乳腺癌患者中的详细分布.
- 探索特定基因型和临床特征之间的相关性.
- 为了评估BRCA2c.5576_5579del变异的发生频率.
主要方法:
- 在神户大学医院和合作机构进行的回顾性研究.
- 在38名乳腺癌患者中分析生殖系致病变体 (PVs) (2018年7月 - 2021年3月).
- 在BRCA2 c.5576_5579del携带者和其他PV携带者之间比较临床特征和亚型.
主要成果:
- 发现了12个BRCA1和26个BRCA2 PVs;12名患者携带BRCA2 c.5576_5579del.
- 携带BRCA2 c.5576_5579del的携带者患三阴性乳腺癌的发病率更高.
- 这种变种占所有检测到的PV的30.8%,其中72.7%在Kakogawa中央城市医院发现.
结论:
- 这种BRCA2 c.5576_5579del创始突变在日本的戈县出现了很高的频率.
- 卡科加瓦市表现出这种突变的特别高的流行率.
- 需要进行进一步的调查,以澄清BRCA2 c.5576_5579del载体的地理位置.
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